版本
5.0
创建日期
2005-11-16 15:48:42 UTC
更新日期
2021-09-14 15:20:01 UTC
登录号
HMDB0000190
地位
quantified
二级访问
HMDB0003328

HMDB00190

HMDB0062492

HMDB03328

HMDB62492

名称
L-Lactic acid
描述
Lactic acid is an organic acid. It is a chiral molecule, consisting of two optical isomers, L-lactic acid and D-lactic acid, with the L-isomer being the most common in living organisms. Lactic acid plays a role in several biochemical processes and is produced in the muscles during intense activity. In animals, L-lactate is constantly produced from pyruvate via the enzyme lactate dehydrogenase (LDH) in a process of fermentation during normal metabolism and exercise. It does not increase in concentration until the rate of lactate production exceeds the rate of lactate removal. This is governed by a number of factors, including monocarboxylate transporters, lactate concentration, the isoform of LDH, and oxidative capacity of tissues. The concentration of blood lactate is usually 1-2 mmol/L at rest, but can rise to over 20 mmol/L during intense exertion. There are some indications that lactate, and not glucose, is preferentially metabolized by neurons in the brain of several mammalian species, including mice, rats, and humans. Glial cells, using the lactate shuttle, are responsible for transforming glucose into lactate, and for providing lactate to the neurons. Lactate measurement in critically ill patients has been traditionally used to stratify patients with poor outcomes. However, plasma lactate levels are the result of a finely tuned interplay of factors that affect the balance between its production and its clearance. When the oxygen supply does not match its consumption, organisms adapt in many different ways, up to the point when energy failure occurs. Lactate, being part of the adaptive response, may then be used to assess the severity of the supply/demand imbalance. In such a scenario, the time to intervention becomes relevant: early and effective treatment may allow tissues and cells to revert to a normal state, as long as the oxygen machinery (i.e. mitochondria) is intact. Conversely, once the mitochondria are deranged, energy failure occurs even in the presence of normoxia. The lactate increase in critically ill patients may, therefore, be viewed as an early marker of a potentially reversible state (PMID: 16356243). When present in sufficiently high levels, lactic acid can act as an oncometabolite, an immunosuppressant, an acidogen, and a metabotoxin. An oncometabolite is a compound that promotes tumor growth and survival. An immunosuppressant reduces or arrests the activity of the immune system. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of lactic acid are associated with at least a dozen inborn errors of metabolism, including 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency, biotinidase deficiency, fructose-1,6-diphosphatase deficiency, glycogen storage disease type 1A (GSD1A) or Von Gierke disease, glycogenosis type IB, glycogenosis type IC, glycogenosis type VI, Hers disease, lactic acidemia, Leigh syndrome, methylmalonate semialdehyde dehydrogenase deficiency, pyruvate decarboxylase E1 component deficiency, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase deficiency, and short chain acyl CoA dehydrogenase deficiency (SCAD deficiency). Locally high concentrations of lactic acid or lactate are found near many tumors due to the upregulation of lactate dehydrogenase (PMID: 15279558). Lactic acid produced by tumors through aerobic glycolysis acts as an immunosuppressant and tumor promoter (PMID: 23729358). Indeed, lactic acid has been found to be a key player or regulator in the development and malignant progression of a variety of cancers (PMID: 22084445). A number of studies have demonstrated that malignant transformation is associated with an increase in aerobic cellular lactate excretion. Lactate concentrations in various carcinomas (e.g. uterine cervix, head and neck, colorectal region) at first diagnosis of the disease, can be relatively low or extremely high (up to 40 µmol/g) in different individual tumors or within the same lesion (PMID: 15279558). High molar concentrations of lactate are correlated with a high incidence of distant metastasis. Low lactate tumors (< median of approximately 8 µmol/g) are associated with both an overall longer and disease-free survival compared to high lactate lesions (lactate > approximately 8 µmol/g). Lactate-induced secretion of hyaluronan by tumor-associated fibroblasts creates a milieu favourable for cell migration and metastases (PMID: 22084445). An acidic environment (pH 6-6.5), which is common in many tumors, allows tumor cells to evade the immune response, and therefore allows them to grow unchecked. Locally high concentrations of lactic acid are known to markedly impede the function of normal immune cells and will lead to a loss of T-cell function of human tumor-infiltrating lymphocytes (PMID: 22084445). Lactic acid is also an organic acid and acts as a general acidogen. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart abnormalities, kidney abnormalities, liver damage, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development. Lactic acid is also a microbial metabolite, urinary lactic acid is produced by Escherichia coli, Pseudomonas aeruginosa, Klebsiella pneumonia, Enterobacter, Acinetobacter, Proteus mirabilis, Citrobacter frundii, Enterococcus faecalis, Streptococcus group B, Staphylococcus saprophyticus (PMID: 22292465), Bacillus, Corynebacterium, Rhizopus and Saccharomyces cerevisiae (PMID: 26360870).
同义词
1:(+)-Lactic acid

2:(S)-(+)-Lactic acid

3:(S)-2-Hydroxypropanoic acid

4:(S)-2-Hydroxypropionic acid

5:L-(+)-alpha-Hydroxypropionic acid

6:L-(+)-Lactic acid

7:L-Milchsaeure

8:L-Lactate

9:(+)-Lactate

10:(S)-(+)-Lactate

11:(S)-2-Hydroxypropanoate

12:(S)-2-Hydroxypropionate

13:L-(+)-a-Hydroxypropionate

14:L-(+)-a-Hydroxypropionic acid

15:L-(+)-alpha-Hydroxypropionate

16:L-(+)-Α-hydroxypropionate

17:L-(+)-Α-hydroxypropionic acid

18:L-(+)-Lactate

19:(alpha)-Lactate

20:(alpha)-Lactic acid

21:(S)-(+)-2-Hydroxypropanoate

22:(S)-(+)-2-Hydroxypropanoic acid

23:(S)-2-Hydroxy-propanoate

24:(S)-2-Hydroxy-propanoic acid

25:(S)-Lactate

26:(S)-Lactic acid

27:1-Hydroxyethane 1-carboxylate

28:1-Hydroxyethane 1-carboxylic acid

29:1-Hydroxyethanecarboxylate

30:1-Hydroxyethanecarboxylic acid

31:2-Hydroxypropanoate

32:2-Hydroxypropanoic acid

33:2-Hydroxypropionate

34:a-Hydroxypropanoate

35:a-Hydroxypropanoic acid

36:a-Hydroxypropionate

37:a-Hydroxypropionic acid

38:alpha-Hydroxypropanoate

39:alpha-Hydroxypropanoic acid

40:alpha-Hydroxypropionate

41:alpha-Hydroxypropionic acid

42:L-(+)- Lactic acid

43:L-2-Hydroxypropanoate

44:L-2-Hydroxypropanoic acid

45:Lactate

46:Lactic acid

47:Milk acid

48:Sarcolactic acid

49:2-Hydroxypropionic acid

50:D-Lactic acid

51:D Lactic acid

52:Lactate, ammonium

53:2 Hydroxypropanoic acid

54:2 Hydroxypropionic acid

55:Ammonium lactate

56:L Lactic acid

57:D-Lactate

58:L-Lactic acid

化学式
C3H6O3
平均分子量
90.0779
等位分子量
90.031694058
化学名称
(2S)-2-hydroxypropanoic acid
传统名称
(α)-lactate
CAS 登记号
79-33-4
代谢物结构字符串
C[C@H](O)C(O)=O
inchi标识符
InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m0/s1
印记键
JVTAAEKCZFNVCJ-REOHCLBHSA-N
分类学
description: belongs to the class of organic compounds known as alpha hydroxy acids and derivatives. These are organic compounds containing a carboxylic acid substituted with a hydroxyl group on the adjacent carbon.

description:Alpha hydroxy acids and derivatives

kingdom:Organic compounds

super_class:Organic acids and derivatives

class:Hydroxy acids and derivatives

sub_class:Alpha hydroxy acids and derivatives

molecular_framework:Aliphatic acyclic compounds

1:Carbonyl compounds

2:Carboxylic acids

3:Hydrocarbon derivatives

4:Monocarboxylic acids and derivatives

5:Organic oxides

6:Secondary alcohols

7:Alcohol

8:Aliphatic acyclic compound

9:Alpha-hydroxy acid

10:Carbonyl group

11:Carboxylic acid

12:Carboxylic acid derivative

13:Hydrocarbon derivative

14:Monocarboxylic acid or derivatives

15:Organic oxide

16:Organic oxygen compound

17:Organooxygen compound

18:Secondary alcohol

19:2-hydroxypropanoic acid

本体论
term:Physiological effect

definition:The effect on an organism physiology, resulting from its exposure to a chemical.

parent_id:

level:1

type:parent

term:Health effect

definition:A health condition or observation associated with a stimuli or with a biological activity of a chemical.

parent_id:7693

*level:2

type:parent

term:Observation

definition:A short term health effect which reflects the reponse of the body to stimuli or is a symptom of a disease or condition; also includes health status which reflects stage in life.

parent_id:7694

**level:3

type:parent

term:Attachment loss

definition:

parent_id:7717

***level:4

type:child

term:Missing teeth

definition:

parent_id:7717

***level:4

type:child

term:Periodontal Probing Depth

definition:

parent_id:7717

***level:4

type:child

term:Health condition

definition:A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.

parent_id:7694

**level:3

type:parent

term:Diabetes mellitus type 1

definition:

parent_id:7695

***level:4

type:child

synonym:Iddm

synonym:T1dm

synonym:Type i diabetes

synonym:Diabetes mellitus type i

synonym:Type 1 diabetes mellitus

synonym:Juvenile diabetes mellitus

synonym:Juvenile diabetes

term:Ethanol intoxication

definition:

parent_id:7695

***level:4

type:child

term:Schizophrenia

definition:A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. (do).

parent_id:7695

***level:4

type:child

term:Cytochrome c oxidase deficiency

definition:

parent_id:7695

***level:4

type:child

term:Paraquat poisoning

definition:

parent_id:7695

***level:4

type:child

term:Chronic progressive external ophthalmoplegia and kearns-sayre syndrome

definition:

parent_id:7695

***level:4

type:child

synonym:Ophthalmoplegia, pigmentary degenaration of retina and cardiomyopathy

synonym:Kearns-sayre disease

synonym:Kearns-sayre syndrome

synonym:Kss

synonym:Oculocraniosomatic syndrome

synonym:Ophthalmoplegia-plus syndrome

synonym:Mitochondrial cytopathy

synonym:Ophthalmoplegia, progressive external, with ragged-red fibre

synonym:Chronic progressive external ophthalmoplegia with myopathy

synonym:Cpeo with myopathy

synonym:Cpeo with ragged-red fibres

term:Anoxia

definition:

parent_id:7695

***level:4

type:child

term:Pyruvate dehydrogenase deficiency

definition:

parent_id:7695

***level:4

type:child

synonym:Pdh

term:Metabolism and nutrition disorders

definition:A group of disorders, inherited or not, that result in a metabolic malfunction.

parent_id:7695

***level:4

type:parent

term:Psychiatric disorders

definition:A group of disorders characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. the symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. (nci).

parent_id:7695

***level:4

type:parent

term:Hepatobiliary disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects the liver and the biliary system.

parent_id:7695

***level:4

type:parent

term:Disposition

definition:A concept that describes the origin of a chemical, its location within an organism, or its route of exposure.

parent_id:

level:1

type:parent

term:Route of exposure

definition:A mean by which a chemical agent comes in contact with an organism, either under intended or unintended circumstances.

parent_id:7724

*level:2

type:parent

term:Enteral

definition:Chemical exposure via the alimentary canal (mouth to anus).

parent_id:7743

**level:3

type:parent

term:Ingestion

definition:Chemical exposure facilitated by entry through the mouth.

parent_id:7744

***level:4

type:child

synonym:Digestion

term:Source

definition:Natural or synthetic origin of a chemical.

parent_id:7724

*level:2

type:parent

term:Endogenous

definition:

parent_id:7735

**level:3

type:child

term:Food

definition:

parent_id:7735

**level:3

type:child

term:Biological

definition:A living organism (species or a higher taxonomy rank), in which a chemical can be found.

parent_id:7735

**level:3

type:parent

term:Animal

definition:A living organism belonging to the kingdom animalia. it feeds on organic matter, typically having specialized sense organs and nervous system and able to respond rapidly to stimuli.

parent_id:7736

***level:4

type:child

synonym:Fauna

term:Saccharomyces cerevisiae

definition:

parent_id:7736

***level:4

type:child

synonym:Baker's yeast

term:Fungi

definition:Living eukaryotic organisms belonging to the kingdom fungi. they include mushrooms as well as microbes such as yeast and mold.

parent_id:7736

***level:4

type:parent

synonym:Fungus

term:Microbe

definition:A living organism that is of a microscopic scale, either single-celled or a cluster of cells.

parent_id:7736

***level:4

type:parent

term:Biological location

definition:The physiological origin within an organism, including anatomical compnents, biofluids and excreta.

parent_id:7724

*level:2

type:parent

term:Tissue and substructures

definition:An anatomical organizational level including multiple cells yet not comprising a complete organ .

parent_id:7725

**level:3

type:parent

term:All tissues

definition:All tissues in the body of the organism.

parent_id:7729

***level:4

type:child

term:Placenta

definition:An organ present in some vertebrates during embryonic gestation that surrounds the fetus and provides it with nutrients and oxygen, facilitates gas and waste exchange between the fetus and mother, and provides parasitic cloaking from the mother's immune system by excretion of neurokinin b. (nci).

parent_id:7729

***level:4

type:child

term:Biofluid and excreta

definition:A liquid, semi-solid or solid material originating in the body.

parent_id:7725

**level:3

type:parent

term:Bile

definition:Fluid composed of waste products, bile acids, salts, cholesterol, and electrolytes. it is secreted by the liver parenchyma and stored in the gallbladder. (nci).

parent_id:7731

***level:4

type:child

term:Urine

definition:Excretion in liquid state processed by the kidney.

parent_id:7731

***level:4

type:child

term:Feces

definition:The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria.

parent_id:7731

***level:4

type:child

synonym:Fecal

synonym:Stool

synonym:Faecal

synonym:Faeces

term:Blood

definition:A liquid tissue with the primary function of transporting oxygen and carbon dioxide (nci). it supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection.

parent_id:7731

***level:4

type:child

term:Breast milk

definition:Portion of secreted substance produced by the mammary gland.

parent_id:7731

***level:4

type:child

term:Saliva

definition:The watery fluid in the mouth made by the salivary glands. saliva moistens food to help digestion and it helps protect the mouth against infections. (nci).

parent_id:7731

***level:4

type:child

term:Sweat

definition:Secretion produced by a sweat gland.

parent_id:7731

***level:4

type:child

term:Cerebrospinal fluid

definition:The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord. (nci).

parent_id:7731

***level:4

type:child

synonym:Csf

term:Subcellular

definition:An anatomical organizational level including a component within a biological cell .

parent_id:7725

**level:3

type:parent

term:Cytoplasm

definition:The portion of the cell contained within the plasma membrane but excluding the nucleus.

parent_id:7730

***level:4

type:child

synonym:Cytoplasma

term:Mitochondria

definition:

parent_id:7730

***level:4

type:child

term:Cell and elements

definition:An anatomical organizational level comprising of a single cell (or a fragment in some exceptions). a cell is defined by its type or function. it is the smallest unit of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.

parent_id:7725

**level:3

type:parent

term:Extracellular

definition:The space external to the outermost structure of a cell.

parent_id:7732

***level:4

type:child

synonym:Extracellular region

term:Process

definition:Biological or chemical events, or a series thereof, leading to a known function or end-product.

parent_id:

level:1

type:parent

term:Naturally occurring process

definition:Naturally-occurring molecular events or a series thereof, leading to a known function or end-product.

parent_id:7659

*level:2

type:parent

term:Biological process

definition:Biological or chemical events or a series thereof, leading to a known function or end-product within an organism.

parent_id:7660

**level:3

type:parent

term:Biochemical pathway

definition:A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.

parent_id:7661

***level:4

type:parent

term:Role

definition:The purpose or function assumed by a chemical, either naturally or as intended by humans .

parent_id:

level:1

type:parent

term:Biological role

definition:The biological function of a chemical. the biological role answers the question how a chemical is involved in molecular processes in an organism. this can include biochemical effects of non-endogenous chemicals, which are also assigned an industrial application such as pharmaceuticals. the biological role is limited to cellular levls, and will not include role at system process level, such as a chemical which has a role in a disease.

parent_id:7671

*level:2

type:parent

term:Oncometabolite

definition:A chemical substance that promotes tumour growth and survival.

parent_id:7672

**level:3

type:child

term:Immunosuppresant

definition:A chemical substance that reduces or arrests the activity of the immune system.

parent_id:7672

**level:3

type:child

term:Indirect biological role

definition:An indirect function of a chemical which affect the physiological state of any organism (apart from the source organism, if of biological source).

parent_id:7671

*level:2

type:parent

term:Acidogen

definition:An acidic chemical substance that induces acidosis, which has multiple adverse effects on many organ systems.

parent_id:7691

**level:3

type:child

term:Metabotoxin

definition:An endogenous metabolite that causes adverse health effects at chronically high levels.

parent_id:7691

**level:3

type:child

状态
Liquid
实验性质
1:

kind:melting_point

value:16.8 °C

source:

预测性质
1:

kind:solubility

value:562 g/L

source:ALOGPS

2:

kind:logp

value:-0.47

source:ChemAxon

3:

kind:pka_strongest_acidic

value:3.78

source:ChemAxon

4:

kind:pka_strongest_basic

value:-3.7

source:ChemAxon

5:

kind:iupac

value:(2S)-2-hydroxypropanoic acid

source:ChemAxon

6:

kind:average_mass

value:90.0779

source:ChemAxon

7:

kind:mono_mass

value:90.031694058

source:ChemAxon

8:

kind:smiles

value:C[C@H](O)C(O)=O

source:ChemAxon

9:

kind:formula

value:C3H6O3

source:ChemAxon

10:

kind:inchi

value:InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m0/s1

source:ChemAxon

11:

kind:inchikey

value:JVTAAEKCZFNVCJ-REOHCLBHSA-N

source:ChemAxon

12:

kind:polar_surface_area

value:57.53

source:ChemAxon

13:

kind:refractivity

value:18.84

source:ChemAxon

14:

kind:polarizability

value:8.06

source:ChemAxon

15:

kind:rotatable_bond_count

value:1

source:ChemAxon

16:

kind:acceptor_count

value:3

source:ChemAxon

17:

kind:donor_count

value:2

source:ChemAxon

18:

kind:physiological_charge

value:-1

source:ChemAxon

19:

kind:formal_charge

value:0

source:ChemAxon

20:

kind:number_of_rings

value:0

source:ChemAxon

21:

kind:bioavailability

value:Yes

source:ChemAxon

22:

kind:rule_of_five

value:Yes

source:ChemAxon

23:

kind:ghose_filter

value:No

source:ChemAxon

24:

kind:veber_rule

value:No

source:ChemAxon

25:

kind:mddr_like_rule

value:No

source:ChemAxon

1:

type:Specdb::EiMs

spectrum_id:1087

2:

type:Specdb::CMs

spectrum_id:434

3:

type:Specdb::CMs

spectrum_id:2365

4:

type:Specdb::CMs

spectrum_id:30161

5:

type:Specdb::CMs

spectrum_id:30601

6:

type:Specdb::CMs

spectrum_id:37346

7:

type:Specdb::CMs

spectrum_id:152925

8:

type:Specdb::NmrTwoD

spectrum_id:989

9:

type:Specdb::NmrTwoD

spectrum_id:1195

10:

type:Specdb::NmrOneD

spectrum_id:1162

11:

type:Specdb::NmrOneD

spectrum_id:1197

12:

type:Specdb::NmrOneD

spectrum_id:4808

13:

type:Specdb::NmrOneD

spectrum_id:6072

14:

type:Specdb::NmrOneD

spectrum_id:6073

15:

type:Specdb::NmrOneD

spectrum_id:6074

16:

type:Specdb::NmrOneD

spectrum_id:6075

17:

type:Specdb::NmrOneD

spectrum_id:6076

18:

type:Specdb::NmrOneD

spectrum_id:6077

19:

type:Specdb::NmrOneD

spectrum_id:6078

20:

type:Specdb::NmrOneD

spectrum_id:6079

21:

type:Specdb::NmrOneD

spectrum_id:6080

22:

type:Specdb::NmrOneD

spectrum_id:6081

23:

type:Specdb::NmrOneD

spectrum_id:6082

24:

type:Specdb::NmrOneD

spectrum_id:6083

25:

type:Specdb::NmrOneD

spectrum_id:6084

26:

type:Specdb::NmrOneD

spectrum_id:6085

27:

type:Specdb::NmrOneD

spectrum_id:6086

28:

type:Specdb::NmrOneD

spectrum_id:6087

29:

type:Specdb::NmrOneD

spectrum_id:6088

30:

type:Specdb::NmrOneD

spectrum_id:6089

31:

type:Specdb::NmrOneD

spectrum_id:6090

32:

type:Specdb::NmrOneD

spectrum_id:6091

33:

type:Specdb::NmrOneD

spectrum_id:166457

34:

type:Specdb::MsMs

spectrum_id:301

35:

type:Specdb::MsMs

spectrum_id:302

36:

type:Specdb::MsMs

spectrum_id:303

37:

type:Specdb::MsMs

spectrum_id:3467

38:

type:Specdb::MsMs

spectrum_id:3468

39:

type:Specdb::MsMs

spectrum_id:3469

40:

type:Specdb::MsMs

spectrum_id:3470

41:

type:Specdb::MsMs

spectrum_id:3471

42:

type:Specdb::MsMs

spectrum_id:178011

43:

type:Specdb::MsMs

spectrum_id:178012

44:

type:Specdb::MsMs

spectrum_id:178013

45:

type:Specdb::MsMs

spectrum_id:180324

46:

type:Specdb::MsMs

spectrum_id:180325

47:

type:Specdb::MsMs

spectrum_id:180326

48:

type:Specdb::MsMs

spectrum_id:438026

49:

type:Specdb::MsMs

spectrum_id:438027

50:

type:Specdb::MsMs

spectrum_id:438028

51:

type:Specdb::MsMs

spectrum_id:438029

52:

type:Specdb::MsMs

spectrum_id:438030

53:

type:Specdb::MsMs

spectrum_id:1474450

54:

type:Specdb::MsMs

spectrum_id:2258028

55:

type:Specdb::MsMs

spectrum_id:2258582

56:

type:Specdb::MsMs

spectrum_id:2260001

57:

type:Specdb::MsMs

spectrum_id:3055172

58:

type:Specdb::MsMs

spectrum_id:3055173

光谱
生物学性质
1:

cellular:(1):Cytoplasm

cellular:(2):Extracellular

cellular:(3):Mitochondria

2:

biospecimen:(1):Bile

biospecimen:(2):Blood

biospecimen:(3):Breast Milk

biospecimen:(4):Cellular Cytoplasm

biospecimen:(5):Cerebrospinal Fluid (CSF)

biospecimen:(6):Feces

biospecimen:(7):Saliva

biospecimen:(8):Sweat

biospecimen:(9):Urine

3:

tissue:(1):All Tissues

tissue:(2):Placenta

4:

[1]:

name:Fructose-1,6-diphosphatase deficiency

smpdb_id:SMP00562

kegg_map_id:

[2]:

name:Glutaminolysis and Cancer

smpdb_id:SMP02298

kegg_map_id:

[3]:

name:Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease

smpdb_id:SMP00374

kegg_map_id:

[4]:

name:Glycogenosis, Type IA. Von gierke disease

smpdb_id:SMP00581

kegg_map_id:

[5]:

name:Glycogenosis, Type IB

smpdb_id:SMP00573

kegg_map_id:

[6]:

name:Glycogenosis, Type IC

smpdb_id:SMP00574

kegg_map_id:

[7]:

name:Glycolysis / Gluconeogenesis

smpdb_id:

kegg_map_id:map00010

[8]:

name:Leigh Syndrome

smpdb_id:SMP00196

kegg_map_id:

[9]:

name:Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1)

smpdb_id:SMP00560

kegg_map_id:

[10]:

name:Primary hyperoxaluria II, PH2

smpdb_id:SMP00558

kegg_map_id:

[11]:

name:Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)

smpdb_id:SMP00334

kegg_map_id:

[12]:

name:Pyruvate Dehydrogenase Complex Deficiency

smpdb_id:SMP00212

kegg_map_id:

[13]:

name:Pyruvate kinase deficiency

smpdb_id:SMP00559

kegg_map_id:

[14]:

name:Pyruvate metabolism

smpdb_id:

kegg_map_id:map00620

[15]:

name:Triosephosphate isomerase

smpdb_id:SMP00563

kegg_map_id:

[16]:

name:Warburg Effect

smpdb_id:SMP00654

kegg_map_id:

正常浓度
1:

biospecimen:Blood

concentration_value:<2100

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

2:

biospecimen:Blood

concentration_value:<2100

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

3:

biospecimen:Blood

concentration_value:450-2200

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

4:

biospecimen:Blood

concentration_value:1000-1550

concentration_units:uM

subject_age:Adolescent (13-18 years old)

subject_sex:Not Specified

subject_condition:Normal

5:

biospecimen:Blood

concentration_value:500-2200

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

6:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

7:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

8:

biospecimen:Blood

concentration_value:<1800

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

9:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

10:

biospecimen:Blood

concentration_value:700-2100

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

11:

biospecimen:Blood

concentration_value:700-1800

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

12:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

13:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

14:

biospecimen:Blood

concentration_value:<2100

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

15:

biospecimen:Blood

concentration_value:600-2300

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

16:

biospecimen:Blood

concentration_value:700-2100

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

17:

biospecimen:Blood

concentration_value:2300 (1950-3000)

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

18:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

19:

biospecimen:Blood

concentration_value:1665.225

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

20:

biospecimen:Blood

concentration_value:740.0 +/- 2400.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

21:

biospecimen:Blood

concentration_value:500-2200

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

22:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

23:

biospecimen:Blood

concentration_value:220-2220

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

24:

biospecimen:Blood

concentration_value:520-1660

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

25:

biospecimen:Blood

concentration_value:2390.0 +/- 990.0

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

26:

biospecimen:Blood

concentration_value:1140.0 +/- 360.0

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

27:

biospecimen:Blood

concentration_value:1510.0 (740.0-2400.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

28:

biospecimen:Blood

concentration_value:500-1700

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

29:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

30:

biospecimen:Blood

concentration_value:500-2200

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

31:

biospecimen:Blood

concentration_value:500-2200

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

32:

biospecimen:Blood

concentration_value:<1800

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

33:

biospecimen:Blood

concentration_value:1000-2000

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

34:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

35:

biospecimen:Blood

concentration_value:<2200

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

36:

biospecimen:Blood

concentration_value:700-2100

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

37:

biospecimen:Blood

concentration_value:600-2500

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

38:

biospecimen:Blood

concentration_value:2976.0 +/- 1555.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

39:

biospecimen:Blood

concentration_value:740.00-2400.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

40:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

41:

biospecimen:Blood

concentration_value:700-2100

concentration_units:uM

subject_age:Adolescent (13-18 years old)

subject_sex:Male

subject_condition:Normal

42:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

43:

biospecimen:Blood

concentration_value:1236.0 (367.0-3245.0)

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

44:

biospecimen:Blood

concentration_value:1489.4 +/- 371.2

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

45:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

46:

biospecimen:Blood

concentration_value:<2000

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

47:

biospecimen:Blood

concentration_value:500-1700

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

48:

biospecimen:Blood

concentration_value:200-2000

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

49:

biospecimen:Breast Milk

concentration_value:69.6 +/- 41.1

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

50:

biospecimen:Cellular Cytoplasm

concentration_value:3200 (2900-3500)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

51:

biospecimen:Cellular Cytoplasm

concentration_value:1100 (600-1600)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

52:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2800

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

53:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:800-1200

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

54:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:<2000

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

55:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:500-2200

concentration_units:uM

subject_age:Newborn (0-30 days old)

subject_sex:Not Specified

subject_condition:Normal

56:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:500-2300

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

57:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1651 +/- 626

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

58:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1590.0 +/- 330.0

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

59:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1200 +/- 250

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

60:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1340 +/- 370

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

61:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1110.150-2442.330

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

62:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:830-2400

concentration_units:uM

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

63:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:850.0 +/- 400.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

64:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:<2000

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

65:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:<1700

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

66:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2240.0 +/- 600.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

67:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:850.0 (450.0-2100.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

68:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:3000.0 (1850.0-4150.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

69:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1770.0 (930.0-2600.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

70:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

71:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

72:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

73:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

74:

biospecimen:Feces

concentration_value:13469.823 (8104.0966-18835.549)

concentration_units:nmol/g wet feces

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

75:

biospecimen:Feces

concentration_value:17059.308 (0-35043.742)

concentration_units:nmol/g wet feces

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

76:

biospecimen:Feces

concentration_value:19686.664 (10324.397-29048.931)

concentration_units:nmol/g wet feces

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

77:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

78:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

79:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

80:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:

subject_condition:Normal

81:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

82:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

83:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

84:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

85:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

86:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

87:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

88:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

89:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

90:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

91:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

92:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

93:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

94:

biospecimen:Saliva

concentration_value:331 (17-2795)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

95:

biospecimen:Saliva

concentration_value:214 (8-826)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

96:

biospecimen:Saliva

concentration_value:228 (29-1336)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

97:

biospecimen:Saliva

concentration_value:624 (21-18855)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

98:

biospecimen:Saliva

concentration_value:451 (113-8585)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

99:

biospecimen:Saliva

concentration_value:244 (64-1480)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

100:

biospecimen:Saliva

concentration_value:511 +/- 612

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

101:

biospecimen:Saliva

concentration_value:622 +/- 625

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

102:

biospecimen:Saliva

concentration_value:96.4 +/- 68.3

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

103:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

104:

biospecimen:Saliva

concentration_value:4210 +/- 10430

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

105:

biospecimen:Saliva

concentration_value:20310 +/- 29930

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

106:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

107:

biospecimen:Saliva

concentration_value:14010 +/- 20350

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

108:

biospecimen:Saliva

concentration_value:4950 +/- 9300

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

109:

biospecimen:Saliva

concentration_value:5450 +/- 10940

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

110:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

111:

biospecimen:Saliva

concentration_value:159 +/- 71.4

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

112:

biospecimen:Saliva

concentration_value:4840 +/- 10270

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

113:

biospecimen:Saliva

concentration_value:3550 +/- 7790

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

114:

biospecimen:Saliva

concentration_value:227 +/- 132

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

115:

biospecimen:Saliva

concentration_value:231 +/- 112

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

116:

biospecimen:Saliva

concentration_value:262 +/- 280

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

117:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

118:

biospecimen:Saliva

concentration_value:526.98 +/- 689.57

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

119:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

120:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

121:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

122:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

123:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

124:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

125:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

126:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

127:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

128:

biospecimen:Saliva

concentration_value:655.86 +/- 393.26

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

129:

biospecimen:Sweat

concentration_value:34000-235000

concentration_units:uM

subject_age:Adult (60 years old)

subject_sex:Male

subject_condition:Normal

130:

biospecimen:Sweat

concentration_value:< 10

concentration_units:uM

subject_age:Adult (40 years old)

subject_sex:Male

subject_condition:Normal

131:

biospecimen:Sweat

concentration_value:

concentration_units:

subject_age:Adult

subject_sex:Both

subject_condition:Normal

132:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

133:

biospecimen:Urine

concentration_value:46.99-774.2

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

134:

biospecimen:Urine

concentration_value:114.1(46.95-359.8)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Female

subject_condition:Normal

135:

biospecimen:Urine

concentration_value:100.0(51.00-797.5)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Male

subject_condition:Normal

136:

biospecimen:Urine

concentration_value:25.194 +/- 11.831

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

137:

biospecimen:Urine

concentration_value:13 (0-78)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

138:

biospecimen:Urine

concentration_value:12.2 +/- 47.6

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:

139:

biospecimen:Urine

concentration_value:50.73 +/- 53.54

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

140:

biospecimen:Urine

concentration_value:13.79-22.3

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Female

subject_condition:Normal

141:

biospecimen:Urine

concentration_value:33.32-444.29

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

142:

biospecimen:Urine

concentration_value:16.4-32.9

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Male

subject_condition:Normal

143:

biospecimen:Urine

concentration_value:19.2-35.5

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Male

subject_condition:Normal

144:

biospecimen:Urine

concentration_value:22.8-35.82

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Female

subject_condition:Normal

145:

biospecimen:Urine

concentration_value:<20000

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

146:

biospecimen:Urine

concentration_value:3.6-11

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

147:

biospecimen:Urine

concentration_value:33.4 +/- 19.27

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

148:

biospecimen:Urine

concentration_value:33.7 +/- 12.37

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

149:

biospecimen:Urine

concentration_value:0-540

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

150:

biospecimen:Urine

concentration_value:65.6 +/- 30.5

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

151:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

152:

biospecimen:Urine

concentration_value:17.0 +/- 10.2

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

153:

biospecimen:Urine

concentration_value:<199.69

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 18 years old)

subject_sex:Both

subject_condition:Normal

154:

biospecimen:Urine

concentration_value:30.9

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

155:

biospecimen:Urine

concentration_value:12.551-125.514

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

156:

biospecimen:Urine

concentration_value:15.18

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

157:

biospecimen:Urine

concentration_value:11.6 (3.5-29.3)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

158:

biospecimen:Urine

concentration_value:33.2 +/- 11.4

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

159:

biospecimen:Urine

concentration_value:25 (13-46)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

160:

biospecimen:Urine

concentration_value:43.2 +/- 15.1

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

161:

biospecimen:Urine

concentration_value:34.200 +/- 12.533

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

162:

biospecimen:Urine

concentration_value:33.867 +/- 19.533

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

163:

biospecimen:Urine

concentration_value:12.3 +/- 6.2

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

164:

biospecimen:Urine

concentration_value:<37

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

165:

biospecimen:Urine

concentration_value:15814.711 (10668.655-19956.660)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:

subject_condition:Normal

166:

biospecimen:Urine

concentration_value:9.084 +/- 4.404

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

167:

biospecimen:Urine

concentration_value:65.78 (21.37 – 249.66)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

168:

biospecimen:Urine

concentration_value:3.9-9.8

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

169:

biospecimen:Urine

concentration_value:<0.00210

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

170:

biospecimen:Urine

concentration_value:17.2

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

171:

biospecimen:Urine

concentration_value:<52

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

172:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

173:

biospecimen:Urine

concentration_value:7.1 (0.9-16.4)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

174:

biospecimen:Urine

concentration_value:45-410

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

175:

biospecimen:Urine

concentration_value:70.4 (27.3-268.3)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

176:

biospecimen:Urine

concentration_value:104.9 (40.2-325.6)

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

177:

biospecimen:Urine

concentration_value:18.7 (5.2-117.8)

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

178:

biospecimen:Urine

concentration_value:15.4 (4.6-77.1)

concentration_units:umol/mmol creatinine

subject_age:Adolescent (13-18 years old)

subject_sex:Both

subject_condition:Normal

179:

biospecimen:Urine

concentration_value:<76

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

180:

biospecimen:Urine

concentration_value:0-150

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

异常浓度
1:

biospecimen:Bile

concentration_value:>10

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Hepatic and biliary malignancies

2:

biospecimen:Blood

concentration_value:1172.1 (683.4)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Down syndrome pregnancy

3:

biospecimen:Blood

concentration_value:884.7 (369.2)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

4:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

5:

biospecimen:Blood

concentration_value:11300

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:

patient_information:Pyruvate carboxylase deficiency

6:

biospecimen:Blood

concentration_value:17000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:

patient_information:Pyruvate carboxylase deficiency

7:

biospecimen:Blood

concentration_value:9900 +/- 8200

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Pyruvate dehydrogenase deficiency (E1)

8:

biospecimen:Blood

concentration_value:7020 +/- 5800

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Pyruvate dehydrogenase deficiency E1-alpha

9:

biospecimen:Blood

concentration_value:2400

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:3-Methylglutaconic Aciduria (Type IX)

10:

biospecimen:Blood

concentration_value:2600

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:3-Methylglutaconic Aciduria (Type IX)

11:

biospecimen:Blood

concentration_value:6660.901-8881.202

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

12:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Oesophageal cancer

13:

biospecimen:Blood

concentration_value:790

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency

14:

biospecimen:Blood

concentration_value:1401.2 +/- 692.1

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Heart Transplant

15:

biospecimen:Blood

concentration_value:1600

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Sulfite oxidase deficiency

16:

biospecimen:Blood

concentration_value:1430-11520

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

17:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

18:

biospecimen:Blood

concentration_value:1350.0 (900.0-1800.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

19:

biospecimen:Blood

concentration_value:4000.0 (2000.0-6000.0)

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Chronic progressive external opthalmoplegia

20:

biospecimen:Blood

concentration_value:3374.857

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Leigh Syndrome

21:

biospecimen:Blood

concentration_value:500.0 +/- 130.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Insulin-dependent diabetes mellitus(IDDM)

22:

biospecimen:Blood

concentration_value:1247.6 +/- 900.3

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy with fetuses with trisomy 18

23:

biospecimen:Blood

concentration_value:946.4 +/- 451.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

24:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

25:

biospecimen:Blood

concentration_value:1006.2 (396.8)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Early preeclampsia

26:

biospecimen:Blood

concentration_value:1035.6 (505.9)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

27:

biospecimen:Blood

concentration_value:10000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

28:

biospecimen:Blood

concentration_value:10000-37900

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Both

patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

29:

biospecimen:Blood

concentration_value:1500-2000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)

30:

biospecimen:Blood

concentration_value:3140

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

31:

biospecimen:Blood

concentration_value:1000-3580

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

32:

biospecimen:Blood

concentration_value:1820.646-5273.214

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Myoclonic epilepsy and ragged red fiber disease

33:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:oesophago-gastric cancer

34:

biospecimen:Blood

concentration_value:3500.0 +/- 4300.0

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Acute ethanol intoxication

35:

biospecimen:Blood

concentration_value:1800-7700

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:2,4-dienoyl-CoA reductase deficiency

36:

biospecimen:Blood

concentration_value:7700

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

37:

biospecimen:Blood

concentration_value:1400-7800

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

38:

biospecimen:Blood

concentration_value:2400-4300

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:3-Hydroxyisobutyryl-coa hydrolase deficiency

39:

biospecimen:Blood

concentration_value:1236.89 (410.48)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy with fetus having congenital heart defect

40:

biospecimen:Blood

concentration_value:1270.97 (604.28)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

41:

biospecimen:Blood

concentration_value:8000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

42:

biospecimen:Blood

concentration_value:3000-6900

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Dihydrolipoamide Dehydrogenase Deficiency

43:

biospecimen:Blood

concentration_value:7600-11000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

44:

biospecimen:Blood

concentration_value:200-10200

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Infantile Liver Failure Syndrome 2

45:

biospecimen:Blood

concentration_value:2200-3000

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Leber Optic Atrophy and Dystonia

46:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

47:

biospecimen:Blood

concentration_value:3800 +/- 2200

concentration_units:uM

patient_age:Adolescent (13-18 years old)

patient_sex:Both

patient_information:Leigh Syndrome, French Canadian Type

48:

biospecimen:Blood

concentration_value:8000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Lipoyltransferase 1 Deficiency

49:

biospecimen:Blood

concentration_value:9600

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Mitochondrial Myopathy, Infantile, Transient

50:

biospecimen:Blood

concentration_value:7000-16000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Narp Syndrome

51:

biospecimen:Blood

concentration_value:3800

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Narp Syndrome

52:

biospecimen:Blood

concentration_value:1700

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

53:

biospecimen:Blood

concentration_value:1213.1 (564.7)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Late-onset preeclampsia

54:

biospecimen:Blood

concentration_value:1100.9 (689.3)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

55:

biospecimen:Blood

concentration_value:10000 +/- 3800

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Pearson Syndrome

56:

biospecimen:Blood

concentration_value:3000-3900

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Pearson Syndrome

57:

biospecimen:Blood

concentration_value:7000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Pearson Syndrome

58:

biospecimen:Blood

concentration_value:850-2050

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic

59:

biospecimen:Blood

concentration_value:2900

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic

60:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Pancreatic cancer

61:

biospecimen:Blood

concentration_value:1400 (900-1800)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Myopathy with lactic acidosis, hereditary

62:

biospecimen:Blood

concentration_value:11800 (6500-19900)

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:GRACILE syndrome

63:

biospecimen:Blood

concentration_value:20000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Fructose-1,6-bisphosphatase deficiency

64:

biospecimen:Blood

concentration_value:8600 (6700-13600)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Myopathy with lactic acidosis, hereditary

65:

biospecimen:Blood

concentration_value:10800

concentration_units:uM

patient_age:Adolescent (13-18 years old)

patient_sex:Male

patient_information:Mitochondrial complex I deficiency due to ACAD9 deficiency

66:

biospecimen:Blood

concentration_value:5100 (3500-6400)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Myopathy with lactic acidosis, hereditary

67:

biospecimen:Blood

concentration_value:6000-10000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Fructose-1,6-bisphosphatase deficiency

68:

biospecimen:Blood

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

69:

biospecimen:Blood

concentration_value:3000

concentration_units:uM

patient_age:Adolescent (13-18 years old)

patient_sex:Male

patient_information:Coenzyme Q10 deficiency

70:

biospecimen:Blood

concentration_value:22000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Coenzyme Q10 deficiency, primary, 5

71:

biospecimen:Blood

concentration_value:13000-17900

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Both

patient_information:Combined oxidative phosphorylation deficiency 10

72:

biospecimen:Blood

concentration_value:4500.00 (3000.00-6000.00)

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Lethal infantile mitochondrial disease

73:

biospecimen:Blood

concentration_value:3200

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Combined oxidative phosphorylation deficiency 11

74:

biospecimen:Blood

concentration_value:6500

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Combined oxidative phosphorylation deficiency 12

75:

biospecimen:Blood

concentration_value:6000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Epileptic encephalopathy, early infantile, 39

76:

biospecimen:Blood

concentration_value:5200

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Fructose intolerance, hereditary

77:

biospecimen:Blood

concentration_value:4600-57700

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Hyperglycinemia, lactic acidosis, and seizures

78:

biospecimen:Blood

concentration_value:15000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

79:

biospecimen:Blood

concentration_value:2100-8500

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Methylmalonic aciduria mitochondrial encephelopathy Leigh-like

80:

biospecimen:Blood

concentration_value:3700-36000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:

patient_information:Mitochondrial trifunctional protein deficiency

81:

biospecimen:Blood

concentration_value:4500-9800

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Mitochondrial-encephalopathy-lactic acidosis-stroke

82:

biospecimen:Blood

concentration_value:9200-10000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Myopathy, lactic acidosis, and sideroblastic anemia 1

83:

biospecimen:Blood

concentration_value:1420-12480

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Myopathy, lactic acidosis, and sideroblastic anemia 1

84:

biospecimen:Blood

concentration_value:15000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Pyruvate dehydrogenase phosphatase deficiency

85:

biospecimen:Blood

concentration_value:3500-14000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Sengers syndrome

86:

biospecimen:Blood

concentration_value:3200-30000

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Not Specified

patient_information:Acute Infantile Liver Failure

87:

biospecimen:Blood

concentration_value:7000-20000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Not Specified

patient_information:Acute Infantile Liver Failure

88:

biospecimen:Blood

concentration_value:1000-3700

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Cerebral creatine deficiency syndrome 2

89:

biospecimen:Blood

concentration_value:4300

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Combined oxidative phosphorylation deficiency 14

90:

biospecimen:Blood

concentration_value:1700

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:D-Lactic Acidosis

91:

biospecimen:Blood

concentration_value:4000-14000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Female

patient_information:Mitochondrial phosphate carrier deficiency

92:

biospecimen:Blood

concentration_value:7000-8000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Female

patient_information:Mitochondrial pyruvate carrier deficiency

93:

biospecimen:Blood

concentration_value:1260

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency

94:

biospecimen:Cellular Cytoplasm

concentration_value:16000 (13000-19000)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Anoxia

95:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:4000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Coenzyme Q10 deficiency

96:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:5900

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Combined oxidative phosphorylation deficiency 11

97:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2600

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Epileptic encephalopathy, early infantile, 39

98:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2200-6300

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2

99:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:4800

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:3-Methylglutaconic Aciduria (Type IX)

100:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1200-2600

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:Cerebral creatine deficiency syndrome 2

101:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:7200

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Combined oxidative phosphorylation deficiency 14

102:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1500

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:D-Lactic Acidosis

103:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:5900 +/- 4500

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Pyruvate dehydrogenase deficiency (E1)

104:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:6070 +/- 3000

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Pyruvate dehydrogenase deficiency E1-alpha

105:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1300.0 (500.0-2100.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Cytochrome C oxidase deficiency

106:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:6850.0 (1700.0-12000)

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Cytochrome C oxidase deficiency

107:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:1930-2500

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

108:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:11767.592

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Coenzyme Q10 deficiency, primary, 1

109:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2109.285-6527.683

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Myoclonic epilepsy and ragged red fiber disease

110:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:4100

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:2,4-dienoyl-CoA reductase deficiency

111:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:3700

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Leber Optic Atrophy and Dystonia

112:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:3600-6200

concentration_units:uM

patient_age:Adolescent (13-18 years old)

patient_sex:Both

patient_information:Leigh Syndrome, French Canadian Type

113:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:6600

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Lipoyltransferase 1 Deficiency

114:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:6000

concentration_units:uM

patient_age:Newborn (0-30 days old)

patient_sex:Male

patient_information:Narp Syndrome

115:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:4400-5400

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Narp Syndrome

116:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:4577.0 (1684.0-7470.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Dementia of Alzheimer type (DAT)

117:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal Cancer

118:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Infant (0-1 year old)

patient_sex:Not Specified

patient_information:Genetically At-Risk of celiac disease

119:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Irritable bowel syndrome

120:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Ulcerative colitis

121:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Not Specified

patient_sex:Not Specified

patient_information:Cryptosporidium infection

122:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Myalgic encephalomyelitis/chronic fatigue syndrome

123:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

124:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Irritable Bowel Syndrome

125:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

126:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

127:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal Cancer

128:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Crohns disease

129:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Ulcerative colitis

130:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Attachment loss 

131:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Missing teeth

132:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Periodontal Probing Depth

133:

biospecimen:Saliva

concentration_value:919.97 +/- 827.31

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Alzheimer's disease

134:

biospecimen:Saliva

concentration_value:811.10 +/- 931.32

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Frontotemporal lobe dementia

135:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Oral squamous cell carcinoma (OSCC)

136:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Oral leukoplakia (OLK)

137:

biospecimen:Saliva

concentration_value:1429.05 +/- 1493.26

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Lewy body disease

138:

biospecimen:Saliva

concentration_value:250 +/- 142

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Temporomandibular joint disorder (TMD)

139:

biospecimen:Urine

concentration_value:20.237 +/- 15.482

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Eosinophilic esophagitis

140:

biospecimen:Urine

concentration_value:>75000

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:

patient_information:Pyruvate carboxylase deficiency

141:

biospecimen:Urine

concentration_value:59000

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:

patient_information:Pyruvate carboxylase deficiency

142:

biospecimen:Urine

concentration_value:38000

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:3-Methylglutaconic Aciduria (Type V)

143:

biospecimen:Urine

concentration_value:12.5 (0.00-25.0)

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Cytochrome C oxidase deficiency

144:

biospecimen:Urine

concentration_value:37550.0 (100.0-75000.0)

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Cytochrome C oxidase deficiency

145:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Bladder cancer

146:

biospecimen:Urine

concentration_value:440

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Paraquat poisoning

147:

biospecimen:Urine

concentration_value:12.551-1701.964

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Amish lethal microcephaly

148:

biospecimen:Urine

concentration_value:0.0015 - 0.0226

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:ADPKD

149:

biospecimen:Urine

concentration_value:4

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Not Specified

patient_information:Propionic acidemia

150:

biospecimen:Urine

concentration_value:22717.959 (5146.0569-92252.484)

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:

patient_information:Fructose intolerance, hereditary

151:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

152:

biospecimen:Urine

concentration_value:29508.66

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Dihydrolipoamide Dehydrogenase Deficiency

153:

biospecimen:Urine

concentration_value:10.427 +/- 6.717

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Eosinophilic esophagitis

154:

biospecimen:Urine

concentration_value:40.788 +/- 110.925

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Gastroesophageal reflux disease

155:

biospecimen:Urine

concentration_value:90.28 (23.35 – 424.10)

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Type 1 diabetes Mellitus

156:

biospecimen:Urine

concentration_value:0.000950-0.0260

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Female

patient_information:3-Methylglutaconic Aciduria (Type VI)

157:

biospecimen:Urine

concentration_value:252

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Lipoyltransferase 1 Deficiency

158:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Schizophrenia

159:

biospecimen:Urine

concentration_value:352

concentration_units:umol/mmol creatinine

patient_age:Newborn (0-30 days old)

patient_sex:Female

patient_information:Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

160:

biospecimen:Urine

concentration_value:7602-20

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Pearson Syndrome

疾病参考
1:

name:Hepatic and biliary malignancies

omim_id:

[1]:

reference_text:Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81.

pubmed_id:15780050

2:

name:Diabetes mellitus type 1

omim_id:222100

[1]:

reference_text:Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8.

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reference_text:van der Kloet FM, Tempels FW, Ismail N, van der Heijden R, Kasper PT, Rojas-Cherto M, van Doorn R, Spijksma G, Koek M, van der Greef J, Makinen VP, Forsblom C, Holthofer H, Groop PH, Reijmers TH, Hankemeier T: Discovery of early-stage biomarkers for diabetic kidney disease using ms-based metabolomics (FinnDiane study). Metabolomics. 2012 Feb;8(1):109-119. Epub 2011 Feb 24.

pubmed_id:22279428

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reference_text:Granado-Lorencio F, Olmedilla-Alonso B, Blanco-Navarro I, Botella-Romero F, Simal-Anton A: Assessment of carotenoid status and the relation to glycaemic control in type I diabetics: a follow-up study. Eur J Clin Nutr. 2006 Aug;60(8):1000-8. Epub 2006 Feb 1.

pubmed_id:16452910

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reference_text:Lorena Ivona ŞTEFAN, Alina NICOLESCU, Simona POPA, Maria MOŢA, Eugenia KOVACS and Calin DELEANU. 1H-NMR URINE METABOLIC PROFILING IN TYPE 1 DIABETES MELLITUS. Rev. Roum. Chim., 2010, 55(11-12), 1033-1037

pubmed_id:

3:

name:Ethanol intoxication

omim_id:

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reference_text:Fulop M, Bock J, Ben-Ezra J, Antony M, Danzig J, Gage JS: Plasma lactate and 3-hydroxybutyrate levels in patients with acute ethanol intoxication. Am J Med. 1986 Feb;80(2):191-4.

pubmed_id:3080879

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name:Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

omim_id:530000

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reference_text:Boles RG, Baldwin EE, Prezant TR: Combined cyclic vomiting and Kearns-Sayre syndromes. Pediatr Neurol. 2007 Feb;36(2):135-6.

pubmed_id:17275670

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reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)

pubmed_id:

5:

name:Pancreatic cancer

omim_id:260350

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reference_text:Loser C, Folsch UR, Paprotny C, Creutzfeldt W: Polyamine concentrations in pancreatic tissue, serum, and urine of patients with pancreatic cancer. Pancreas. 1990 Mar;5(2):119-27.

pubmed_id:2315288

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reference_text:Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10.

pubmed_id:20300169

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reference_text:Zhang L, Jin H, Guo X, Yang Z, Zhao L, Tang S, Mo P, Wu K, Nie Y, Pan Y, Fan D: Distinguishing pancreatic cancer from chronic pancreatitis and healthy individuals by (1)H nuclear magnetic resonance-based metabonomic profiles. Clin Biochem. 2012 Sep;45(13-14):1064-9. doi: 10.1016/j.clinbiochem.2012.05.012. Epub 2012 May 19.

pubmed_id:22613268

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reference_text:OuYang D, Xu J, Huang H, Chen Z: Metabolomic profiling of serum from human pancreatic cancer patients using 1H NMR spectroscopy and principal component analysis. Appl Biochem Biotechnol. 2011 Sep;165(1):148-54. doi: 10.1007/s12010-011-9240-0. Epub 2011 Apr 20.

pubmed_id:21505807

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reference_text:Xie G, Lu L, Qiu Y, Ni Q, Zhang W, Gao YT, Risch HA, Yu H, Jia W: Plasma metabolite biomarkers for the detection of pancreatic cancer. J Proteome Res. 2015 Feb 6;14(2):1195-202. doi: 10.1021/pr501135f. Epub 2014 Dec 8.

pubmed_id:25429707

6:

name:Schizophrenia

omim_id:181500

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reference_text:Kobayashi K, Koide Y, Yoshino K, Shohmori T: [P-hydroxyphenylacetic acid concentrations in cerebrospinal fluid]. No To Shinkei. 1982 Aug;34(8):769-74.

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reference_text:Alfredsson G, Wiesel FA: Monoamine metabolites and amino acids in serum from schizophrenic patients before and during sulpiride treatment. Psychopharmacology (Berl). 1989;99(3):322-7.

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reference_text:Heresco-Levy U, Bar G, Levin R, Ermilov M, Ebstein RP, Javitt DC: High glycine levels are associated with prepulse inhibition deficits in chronic schizophrenia patients. Schizophr Res. 2007 Mar;91(1-3):14-21. Epub 2007 Feb 2.

pubmed_id:17276036

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reference_text:Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7.

pubmed_id:11877547

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reference_text:Hashimoto K, Fukushima T, Shimizu E, Komatsu N, Watanabe H, Shinoda N, Nakazato M, Kumakiri C, Okada S, Hasegawa H, Imai K, Iyo M: Decreased serum levels of D-serine in patients with schizophrenia: evidence in support of the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia. Arch Gen Psychiatry. 2003 Jun;60(6):572-6.

pubmed_id:12796220

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reference_text:Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62.

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reference_text:Gronwald W, Klein MS, Zeltner R, Schulze BD, Reinhold SW, Deutschmann M, Immervoll AK, Boger CA, Banas B, Eckardt KU, Oefner PJ: Detection of autosomal dominant polycystic kidney disease by NMR spectroscopic fingerprinting of urine. Kidney Int. 2011 Jun;79(11):1244-53. doi: 10.1038/ki.2011.30. Epub 2011 Mar 9.

pubmed_id:21389975

74:

name:Eosinophilic esophagitis

omim_id:610247

[1]:

reference_text:Mordechai, Hien, and David S. Wishart

pubmed_id:

75:

name:Propionic acidemia

omim_id:606054

[1]:

reference_text:Scholl-Burgi S, Haberlandt E, Gotwald T, Albrecht U, Baumgartner Sigl S, Rauchenzauner M, Rostasy K, Karall D: Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics. 2009 Apr;40(2):76-81. doi: 10.1055/s-0029-1231065. Epub 2009 Oct 6.

pubmed_id:19809936

[2]:

reference_text:Gronwald W, Klein MS, Kaspar H, Fagerer SR, Nurnberger N, Dettmer K, Bertsch T, Oefner PJ: Urinary metabolite quantification employing 2D NMR spectroscopy. Anal Chem. 2008 Dec 1;80(23):9288-97. doi: 10.1021/ac801627c.

pubmed_id:19551947

[3]:

reference_text:Thompson GN, Chalmers RA, Walter JH, Bresson JL, Lyonnet SL, Reed PJ, Saudubray JM, Leonard JV, Halliday D: The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur J Pediatr. 1990 Aug;149(11):792-6.

pubmed_id:2226555

[4]:

reference_text:Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30.

pubmed_id:28853722

[5]:

reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)

pubmed_id:

76:

name:Amish lethal microcephaly

omim_id:607196

[1]:

reference_text:Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH: Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529.

pubmed_id:12376931

77:

name:3-Methylglutaconic Aciduria type VI

omim_id:614739

[1]:

reference_text:Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9.

pubmed_id:16527507

78:

name:3-Methylglutaconic Aciduria type V

omim_id:610198

[1]:

reference_text:Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13.

pubmed_id:22797137

79:

name:Fructose intolerance, hereditary

omim_id:229600

[1]:

reference_text:Steinmann B, Gitzelmann R: The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297-316.

pubmed_id:6268573

[2]:

reference_text:Valadares ER, Cruz AF, Adelino TE, Kanufre Vde C, Ribeiro Mdo C, Penido MG, Peret Filho LA, Valadares LM: Hereditary fructose intolerance in Brazilian patients. Mol Genet Metab Rep. 2015 Jun 15;4:35-8. doi: 10.1016/j.ymgmr.2015.05.007. eCollection 2015 Sep.

pubmed_id:26937407

80:

name:Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

omim_id:220500

[1]:

reference_text:James AW, Miranda SG, Culver K, Hall BD, Golabi M: DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. 2007 Dec 1;143A(23):2821-31. doi: 10.1002/ajmg.a.32054.

pubmed_id:17994565

KEGG数据库编号
C00186
DrugBank数据库编号
foodb数据库编号
FDB003294
ChemSpider数据库编号
96860
公共化学化合物编号
107689
PDB数据库编号
生物利益的化学实体数据库编号
422
knapsack数据库编号
C00001191
维基百科编号
Lactic_Acid
代谢途径的数据库编号
L-LACTATE
苯酚资源管理器化合物数据库编号
比格数据库编号
34179
梅林编号
5205
虚拟机身份证编号
LAC_L
fbonto数据库编号
综合参考
Lao, Hanzhang; Sun, Jianrong; Wang, Jian; Qian, Zhiliang. Process for preparation of high-purity L-lactic acid. Faming Zhuanli Shenqing Gongkai Shuomingshu (2007), 9pp.
一般参考
1:

protein_accession:HMDBP00893

name:L-lactate dehydrogenase A-like 6A

uniprot_id:Q6ZMR3

gene_name:LDHAL6A

protein_type:Unknown

2:

protein_accession:HMDBP03577

name:L-lactate dehydrogenase B chain

uniprot_id:P07195

gene_name:LDHB

protein_type:Unknown

3:

protein_accession:HMDBP03578

name:L-lactate dehydrogenase C chain

uniprot_id:P07864

gene_name:LDHC

protein_type:Unknown

4:

protein_accession:HMDBP03579

name:L-lactate dehydrogenase A chain

uniprot_id:P00338

gene_name:LDHA

protein_type:Unknown

5:

protein_accession:HMDBP03581

name:L-lactate dehydrogenase A-like 6B

uniprot_id:Q9BYZ2

gene_name:LDHAL6B

protein_type:Unknown

蛋白质结合
1:

reference_text:Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993;16(4):648-69.

pubmed_id:8412012

2:

reference_text:Silwood CJ, Lynch E, Claxson AW, Grootveld MC: 1H and (13)C NMR spectroscopic analysis of human saliva. J Dent Res. 2002 Jun;81(6):422-7.

pubmed_id:12097436

3:

reference_text:Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25.

pubmed_id:15627241

4:

reference_text:Commodari F, Arnold DL, Sanctuary BC, Shoubridge EA: 1H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B12 deficient patient. NMR Biomed. 1991 Aug;4(4):192-200.

pubmed_id:1931558

5:

reference_text:Nakayama Y, Kinoshita A, Tomita M: Dynamic simulation of red blood cell metabolism and its application to the analysis of a pathological condition. Theor Biol Med Model. 2005 May 9;2:18.

pubmed_id:15882454

6:

reference_text:Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36.

pubmed_id:8579834

7:

reference_text:Nicholson JK, Buckingham MJ, Sadler PJ: High resolution 1H n.m.r. studies of vertebrate blood and plasma. Biochem J. 1983 Jun 1;211(3):605-15.

pubmed_id:6411064

8:

reference_text:Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4.

pubmed_id:9693263

9:

reference_text:Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61.

pubmed_id:9625050

10:

reference_text:Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51.

pubmed_id:7729054

11:

reference_text:Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81.

pubmed_id:15780050

12:

reference_text:Kaya M, Moriwaki Y, Ka T, Inokuchi T, Yamamoto A, Takahashi S, Tsutsumi Z, Tsuzita J, Oku Y, Yamamoto T: Plasma concentrations and urinary excretion of purine bases (uric acid, hypoxanthine, and xanthine) and oxypurinol after rigorous exercise. Metabolism. 2006 Jan;55(1):103-7.

pubmed_id:16324927

13:

reference_text:Nielsen J, Ytrebo LM, Borud O: Lactate and pyruvate concentrations in capillary blood from newborns. Acta Paediatr. 1994 Sep;83(9):920-2.

pubmed_id:7819686

14:

reference_text:Isotalo T, Talja M, Hellstrom P, Perttila I, Valimaa T, Tormala P, Tammela TL: A double-blind, randomized, placebo-controlled pilot study to investigate the effects of finasteride combined with a biodegradable self-reinforced poly L-lactic acid spiral stent in patients with urinary retention caused by bladder outlet obstruction from benign prostatic hyperplasia. BJU Int. 2001 Jul;88(1):30-4.

pubmed_id:11446841

15:

reference_text:Shirai Y, Kamimura K, Seki T, Morohashi M: L-lactic acid as a mosquito (Diptera: Culicidae) repellent on human and mouse skin. J Med Entomol. 2001 Jan;38(1):51-4.

pubmed_id:11268691

16:

reference_text:Valenza F, Aletti G, Fossali T, Chevallard G, Sacconi F, Irace M, Gattinoni L: Lactate as a marker of energy failure in critically ill patients: hypothesis. Crit Care. 2005;9(6):588-93. Epub 2005 Sep 28.

pubmed_id:16356243

17:

reference_text:Walenta S, Schroeder T, Mueller-Klieser W: Lactate in solid malignant tumors: potential basis of a metabolic classification in clinical oncology. Curr Med Chem. 2004 Aug;11(16):2195-204.

pubmed_id:15279558

18:

reference_text:Choi SY, Collins CC, Gout PW, Wang Y: Cancer-generated lactic acid: a regulatory, immunosuppressive metabolite? J Pathol. 2013 Aug;230(4):350-5. doi: 10.1002/path.4218.

pubmed_id:23729358

19:

reference_text:Hirschhaeuser F, Sattler UG, Mueller-Klieser W: Lactate: a metabolic key player in cancer. Cancer Res. 2011 Nov 15;71(22):6921-5. doi: 10.1158/0008-5472.CAN-11-1457.

pubmed_id:22084445

20:

reference_text:Gupta A, Dwivedi M, Mahdi AA, Khetrapal CL, Bhandari M: Broad identification of bacterial type in urinary tract infection using (1)h NMR spectroscopy. J Proteome Res. 2012 Mar 2;11(3):1844-54. doi: 10.1021/pr2010692. Epub 2012 Jan 31.

pubmed_id:22292465

21:

reference_text:Becker J, Lange A, Fabarius J, Wittmann C: Top value platform chemicals: bio-based production of organic acids. Curr Opin Biotechnol. 2015 Dec;36:168-75. doi: 10.1016/j.copbio.2015.08.022. Epub 2015 Sep 8.

pubmed_id:26360870

22:

reference_text:Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043.

pubmed_id:32033212

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