版本
5.0
创建日期
2005-11-16 15:48:42 UTC
更新日期
2021-09-07 16:24:13 UTC
登录号
HMDB0000254
地位
quantified
二级访问
HMDB00254

名称
Succinic acid
描述
Succinic acid (succinate) is a dicarboxylic acid. It is an important component of the citric acid or TCA cycle and is capable of donating electrons to the electron transfer chain. Succinate is found in all living organisms ranging from bacteria to plants to mammals. In eukaryotes, succinate is generated in the mitochondria via the tricarboxylic acid cycle (TCA). Succinate can readily be imported into the mitochondrial matrix by the n-butylmalonate- (or phenylsuccinate-) sensitive dicarboxylate carrier in exchange with inorganic phosphate or another organic acid, e. g. malate (PMID 16143825). Succinate can exit the mitochondrial matrix and function in the cytoplasm as well as the extracellular space. Succinate has multiple biological roles including roles as a metabolic intermediate and roles as a cell signalling molecule. Succinate can alter gene expression patterns, thereby modulating the epigenetic landscape or it can exhibit hormone-like signaling functions (PMID: 26971832). As such, succinate links cellular metabolism, especially ATP formation, to the regulation of cellular function. Succinate can be broken down or metabolized into fumarate by the enzyme succinate dehydrogenase (SDH), which is part of the electron transport chain involved in making ATP. Dysregulation of succinate synthesis, and therefore ATP synthesis, can happen in a number of genetic mitochondrial diseases, such as Leigh syndrome, and Melas syndrome. Succinate has been found to be associated with D-2-hydroxyglutaric aciduria, which is an inborn error of metabolism. Succinic acid has recently been identified as an oncometabolite or an endogenous, cancer causing metabolite. High levels of this organic acid can be found in tumors or biofluids surrounding tumors. Its oncogenic action appears to due to its ability to inhibit prolyl hydroxylase-containing enzymes. In many tumours, oxygen availability becomes limited (hypoxia) very quickly due to rapid cell proliferation and limited blood vessel growth. The major regulator of the response to hypoxia is the HIF transcription factor (HIF-alpha). Under normal oxygen levels, protein levels of HIF-alpha are very low due to constant degradation, mediated by a series of post-translational modification events catalyzed by the prolyl hydroxylase domain-containing enzymes PHD1, 2 and 3, (also known as EglN2, 1 and 3) that hydroxylate HIF-alpha and lead to its degradation. All three of the PHD enzymes are inhibited by succinate. In humans, urinary succinic acid is produced by Escherichia coli, Pseudomonas aeruginosa, Klebsiella pneumonia, Enterobacter, Acinetobacter, Proteus mirabilis, Citrobacter frundii, Enterococcus faecalis (PMID: 22292465). Succinic acid is also found in Actinobacillus, Anaerobiospirillum, Mannheimia, Corynebacterium and Basfia (PMID: 22292465; PMID: 18191255; PMID: 26360870).
同义词
1:1,2-Ethanedicarboxylic acid

2:Acide butanedioique

3:Acide succinique

4:Acidum succinicum

5:Amber acid

6:Asuccin

7:Bernsteinsaeure

8:Butandisaeure

9:Butanedionic acid

10:Dihydrofumaric acid

11:e363

12:Ethylenesuccinic acid

13:HOOC-CH2-CH2-COOH

14:Spirit OF amber

15:1,2-Ethanedicarboxylate

16:Butanedionate

17:Dihydrofumarate

18:Ethylenesuccinate

19:Succinate

20:2-Acetamido-2-deoxy-D-glucose

21:D-GlcNAc

22:N-Acetyl-D-glucosamine

23:N-Acetylchitosamine

24:N Acetyl D glucosamine

25:2 Acetamido 2 deoxy D glucose

26:2 Acetamido 2 deoxyglucose

27:2-Acetamido-2-deoxyglucose

28:Acetylglucosamine

29:1,4-Butanedioate

30:1,4-Butanedioic acid

31:Katasuccin

32:Wormwood acid

33:1,2 Ethanedicarboxylic acid

34:1,4 Butanedioic acid

35:Potassium succinate

36:Succinate, ammonium

37:Butanedioic acid

38:Succinate, potassium

39:Ammonium succinate

化学式
C4H6O4
平均分子量
118.088
等位分子量
118.02660868
化学名称
butanedioic acid
传统名称
succinic acid
CAS 登记号
110-15-6
代谢物结构字符串
OC(=O)CCC(O)=O
inchi标识符
InChI=1S/C4H6O4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)(H,7,8)
印记键
KDYFGRWQOYBRFD-UHFFFAOYSA-N
分类学
description: belongs to the class of organic compounds known as dicarboxylic acids and derivatives. These are organic compounds containing exactly two carboxylic acid groups.

description:Dicarboxylic acids and derivatives

kingdom:Organic compounds

super_class:Organic acids and derivatives

class:Carboxylic acids and derivatives

sub_class:Dicarboxylic acids and derivatives

molecular_framework:Aliphatic acyclic compounds

1:Carbonyl compounds

2:Carboxylic acids

3:Fatty acids and conjugates

4:Hydrocarbon derivatives

5:Organic oxides

6:Aliphatic acyclic compound

7:Carbonyl group

8:Carboxylic acid

9:Dicarboxylic acid or derivatives

10:Fatty acid

11:Hydrocarbon derivative

12:Organic oxide

13:Organic oxygen compound

14:Organooxygen compound

15:C4-dicarboxylic acid

16:Dicarboxylic acids

17:alpha,omega-dicarboxylic 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:Gastrointestinal disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects the gastrointestinal tract.

parent_id:7695

***level:4

type:parent

term:Cardiac disorders

definition:Any disorder that affects the heart.

parent_id:7695

***level:4

type:parent

term:Cancer

definition:A group of disorders characterized by the presense of malignant neoplasm.

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:Parenteral

definition:Chemical exposure via the a route other than the alimentary canal.

parent_id:7743

**level:3

type:parent

term:Inhalation

definition:Chemical exposure facilitated by breathing in, followed by absorption via the lungs. this is the major route of terresitral organisms to aerosols, vapors, gases, and volatile particulates.

parent_id:7745

***level:4

type:child

synonym:Pulmonary

synonym:Nasal

term:Ocular

definition:Chemical exposure by contact with the exposed surface oft the eye.

parent_id:7745

***level:4

type:child

synonym:Eye contact

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: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:Plant

definition:A living organism belonging to the kingdom plantea. typically, it grows in a permanent site, absorbs water and inorganic substances through its roots, and synthesizes nutrients in its leaves by photosynthesis using the green pigment chlorophyll. examples incude trees, shrubs, herbs, grasses, ferns, and mosses.

parent_id:7736

***level:4

type:parent

synonym:Flora

term:Biological location

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

parent_id:7724

*level:2

type:parent

term:Organ and components

definition:An anatomical organizational level including multiple tissues or substructures, which enables a common biological function.

parent_id:7725

**level:3

type:parent

term:Spleen

definition:An abdominal organ that is part of the hematopoietic and immune systems. it is composed of the white pulp and the red pulp and is surrounded by a capsule. (nci).

parent_id:7727

***level:4

type:child

term:Brain

definition:An organ composed of grey and white matter that is the center for intelligence and reasoning. it is protected by the bony cranium. (nci).

parent_id:7727

***level:4

type:child

term:Liver

definition:An abdominal organ that has variable lobation which are composed mainly of hepatic lobules. (nci).

parent_id:7727

***level:4

type:child

term:Prostate

definition:The male reproductive accessory gland that produces prostatic fluid and is located adjacent to or around the urethra distal to the urinary bladder in mammals. (nci).

parent_id:7727

***level:4

type:child

synonym:Prostate gland

term:Kidney

definition:The organs of the urinary tract located in the retroperitoneal cavity adjacent to the spine and composed of the renal cortex and the renal medulla. (nci).

parent_id:7727

***level:4

type:child

synonym:Kidneys

term:Pancreas

definition:A digestive organ in the abdomen that has both endocrine and exocrine functions. (nci).

parent_id:7727

***level:4

type:child

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: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:Skeletal muscle

definition:Striated muscles that are under voluntary control of the organism. they are connected at either or both ends to a bone and are utilized for locomotion and other movements. (nci).

parent_id:7729

***level:4

type:child

synonym:Striated muscle

term:Adipose tissue

definition:A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers. (NCI)

parent_id:7729

***level:4

type:child

synonym:Fat tissue

synonym:Body fat

synonym:Adipose

term:Muscle

definition:A fibrous soft tissue with the ability to contract to produce force and motion. (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:Urine

definition:Excretion in liquid state processed by the kidney.

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: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: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: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:Cell

definition:

parent_id:7732

***level:4

type:parent

term:Subcellular

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

parent_id:7725

**level:3

type:parent

term:Mitochondria

definition:

parent_id:7730

***level:4

type:child

term:Endoplasmic reticulum

definition:A network of tubular membranes within the cytoplasm of the cell, occurring either with a smooth surface (smooth endoplasmic reticulum) or studded with ribosomes (rough endoplasmic reticulum), involved in the transport of materials. (Infoplease Dictionary via NCI)

parent_id:7730

***level:4

type:child

synonym:Er

term:Peroxisome

definition:A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. (Gene Ontology).

parent_id:7730

***level:4

type:child

synonym:Peroxisome vesicle

synonym:Peroxisomal

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: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:Trace element

definition:A chemical element that occurs in very small amounts in organisms and is essential for many physiological and biochemical processes.В .

parent_id:7672

**level:3

type:child

synonym:Trace mineral

synonym:Essential mineral

term:Industrial application

definition:The assumed function of a chemical utilized by human.

parent_id:7671

*level:2

type:parent

term:Food and nutrition

definition:A chemical purpose related to manufacturing of food and nutrition products.

parent_id:7678

**level:3

type:parent

term:Nutritional supplement

definition:

parent_id:7687

***level:4

type:child

synonym:Nutraceutical

synonym:Dietary supplement

term:Pharmaceutical industry

definition:A pharmacologic activity for which a chemical substance is utilized owing to its biological role.

parent_id:7678

**level:3

type:parent

term:Pharmaceutical

definition:

parent_id:7679

***level:4

type:child

状态
Solid
实验性质
1:

kind:water_solubility

value:83.2 mg/mL

source:

2:

kind:logp

value:-0.59

source:HANSCH,C ET AL. (1995)

3:

kind:melting_point

value:185 - 188 °C

source:

预测性质
1:

kind:logp

value:-0.53

source:ALOGPS

2:

kind:logs

value:0.25

source:ALOGPS

3:

kind:solubility

value:211 g/L

source:ALOGPS

4:

kind:logp

value:-0.4

source:ChemAxon

5:

kind:pka_strongest_acidic

value:3.55

source:ChemAxon

6:

kind:iupac

value:butanedioic acid

source:ChemAxon

7:

kind:average_mass

value:118.088

source:ChemAxon

8:

kind:mono_mass

value:118.02660868

source:ChemAxon

9:

kind:smiles

value:OC(=O)CCC(O)=O

source:ChemAxon

10:

kind:formula

value:C4H6O4

source:ChemAxon

11:

kind:inchi

value:InChI=1S/C4H6O4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)(H,7,8)

source:ChemAxon

12:

kind:inchikey

value:KDYFGRWQOYBRFD-UHFFFAOYSA-N

source:ChemAxon

13:

kind:polar_surface_area

value:74.6

source:ChemAxon

14:

kind:refractivity

value:23.54

source:ChemAxon

15:

kind:polarizability

value:10.14

source:ChemAxon

16:

kind:rotatable_bond_count

value:3

source:ChemAxon

17:

kind:acceptor_count

value:4

source:ChemAxon

18:

kind:donor_count

value:2

source:ChemAxon

19:

kind:physiological_charge

value:-2

source:ChemAxon

20:

kind:formal_charge

value:0

source:ChemAxon

21:

kind:number_of_rings

value:0

source:ChemAxon

22:

kind:bioavailability

value:Yes

source:ChemAxon

23:

kind:rule_of_five

value:Yes

source:ChemAxon

24:

kind:ghose_filter

value:No

source:ChemAxon

25:

kind:veber_rule

value:No

source:ChemAxon

26:

kind:mddr_like_rule

value:No

source:ChemAxon

1:

type:Specdb::EiMs

spectrum_id:1081

2:

type:Specdb::NmrTwoD

spectrum_id:1008

3:

type:Specdb::NmrTwoD

spectrum_id:1241

4:

type:Specdb::CMs

spectrum_id:490

5:

type:Specdb::CMs

spectrum_id:491

6:

type:Specdb::CMs

spectrum_id:492

7:

type:Specdb::CMs

spectrum_id:1045

8:

type:Specdb::CMs

spectrum_id:2715

9:

type:Specdb::CMs

spectrum_id:27639

10:

type:Specdb::CMs

spectrum_id:29901

11:

type:Specdb::CMs

spectrum_id:30151

12:

type:Specdb::CMs

spectrum_id:30232

13:

type:Specdb::CMs

spectrum_id:30696

14:

type:Specdb::CMs

spectrum_id:30935

15:

type:Specdb::CMs

spectrum_id:31104

16:

type:Specdb::CMs

spectrum_id:31894

17:

type:Specdb::CMs

spectrum_id:37388

18:

type:Specdb::CMs

spectrum_id:137821

19:

type:Specdb::CMs

spectrum_id:145555

20:

type:Specdb::MsMs

spectrum_id:439

21:

type:Specdb::MsMs

spectrum_id:440

22:

type:Specdb::MsMs

spectrum_id:441

23:

type:Specdb::MsMs

spectrum_id:3772

24:

type:Specdb::MsMs

spectrum_id:3773

25:

type:Specdb::MsMs

spectrum_id:3774

26:

type:Specdb::MsMs

spectrum_id:3775

27:

type:Specdb::MsMs

spectrum_id:3776

28:

type:Specdb::MsMs

spectrum_id:3777

29:

type:Specdb::MsMs

spectrum_id:3778

30:

type:Specdb::MsMs

spectrum_id:3779

31:

type:Specdb::MsMs

spectrum_id:3780

32:

type:Specdb::MsMs

spectrum_id:3781

33:

type:Specdb::MsMs

spectrum_id:3785

34:

type:Specdb::MsMs

spectrum_id:3786

35:

type:Specdb::MsMs

spectrum_id:178722

36:

type:Specdb::MsMs

spectrum_id:178723

37:

type:Specdb::MsMs

spectrum_id:178724

38:

type:Specdb::MsMs

spectrum_id:181041

39:

type:Specdb::MsMs

spectrum_id:181042

40:

type:Specdb::MsMs

spectrum_id:181043

41:

type:Specdb::MsMs

spectrum_id:438413

42:

type:Specdb::MsMs

spectrum_id:438414

43:

type:Specdb::MsMs

spectrum_id:438415

44:

type:Specdb::MsMs

spectrum_id:438416

45:

type:Specdb::NmrOneD

spectrum_id:1219

46:

type:Specdb::NmrOneD

spectrum_id:1285

47:

type:Specdb::NmrOneD

spectrum_id:2141

48:

type:Specdb::NmrOneD

spectrum_id:2829

49:

type:Specdb::NmrOneD

spectrum_id:4850

50:

type:Specdb::NmrOneD

spectrum_id:143210

51:

type:Specdb::NmrOneD

spectrum_id:143211

52:

type:Specdb::NmrOneD

spectrum_id:143212

53:

type:Specdb::NmrOneD

spectrum_id:143213

54:

type:Specdb::NmrOneD

spectrum_id:143214

55:

type:Specdb::NmrOneD

spectrum_id:143215

56:

type:Specdb::NmrOneD

spectrum_id:143216

57:

type:Specdb::NmrOneD

spectrum_id:143217

58:

type:Specdb::NmrOneD

spectrum_id:143218

59:

type:Specdb::NmrOneD

spectrum_id:143219

60:

type:Specdb::NmrOneD

spectrum_id:143220

61:

type:Specdb::NmrOneD

spectrum_id:143221

62:

type:Specdb::NmrOneD

spectrum_id:143222

63:

type:Specdb::NmrOneD

spectrum_id:143223

64:

type:Specdb::NmrOneD

spectrum_id:143224

65:

type:Specdb::NmrOneD

spectrum_id:143225

66:

type:Specdb::NmrOneD

spectrum_id:143226

67:

type:Specdb::NmrOneD

spectrum_id:143227

68:

type:Specdb::NmrOneD

spectrum_id:143228

69:

type:Specdb::NmrOneD

spectrum_id:143229

光谱
生物学性质
1:

cellular:(1):Endoplasmic reticulum

cellular:(2):Extracellular

cellular:(3):Mitochondria

cellular:(4):Peroxisome

2:

biospecimen:(1):Blood

biospecimen:(2):Breast Milk

biospecimen:(3):Cerebrospinal Fluid (CSF)

biospecimen:(4):Feces

biospecimen:(5):Saliva

biospecimen:(6):Sweat

biospecimen:(7):Urine

3:

tissue:(1):Adipose Tissue

tissue:(2):Brain

tissue:(3):Fibroblasts

tissue:(4):Kidney

tissue:(5):Liver

tissue:(6):Pancreas

tissue:(7):Placenta

tissue:(8):Prostate

tissue:(9):Skeletal Muscle

tissue:(10):Spleen

4:

[1]:

name:2-Hydroxyglutric Aciduria (D And L Form)

smpdb_id:SMP00136

kegg_map_id:

[2]:

name:2-ketoglutarate dehydrogenase complex deficiency

smpdb_id:SMP00549

kegg_map_id:

[3]:

name:2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency

smpdb_id:SMP00137

kegg_map_id:

[4]:

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

smpdb_id:SMP00138

kegg_map_id:

[5]:

name:3-hydroxyisobutyric acid dehydrogenase deficiency

smpdb_id:SMP00521

kegg_map_id:

[6]:

name:3-hydroxyisobutyric aciduria

smpdb_id:SMP00522

kegg_map_id:

[7]:

name:3-Methylcrotonyl Coa Carboxylase Deficiency Type I

smpdb_id:SMP00237

kegg_map_id:

[8]:

name:3-Methylglutaconic Aciduria Type I

smpdb_id:SMP00139

kegg_map_id:

[9]:

name:3-Methylglutaconic Aciduria Type III

smpdb_id:SMP00140

kegg_map_id:

[10]:

name:3-Methylglutaconic Aciduria Type IV

smpdb_id:SMP00141

kegg_map_id:

[11]:

name:4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency

smpdb_id:SMP00243

kegg_map_id:

[12]:

name:Arginine and proline metabolism

smpdb_id:

kegg_map_id:map00330

[13]:

name:Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)

smpdb_id:SMP00362

kegg_map_id:

[14]:

name:Beta-Ketothiolase Deficiency

smpdb_id:SMP00173

kegg_map_id:

[15]:

name:Butyrate Metabolism

smpdb_id:SMP00073

kegg_map_id:map00650

[16]:

name:Carnitine Synthesis

smpdb_id:SMP00465

kegg_map_id:

[17]:

name:Citric Acid Cycle

smpdb_id:SMP00057

kegg_map_id:map00020

[18]:

name:Congenital lactic acidosis

smpdb_id:SMP00546

kegg_map_id:

[19]:

name:Creatine deficiency, guanidinoacetate methyltransferase deficiency

smpdb_id:SMP00504

kegg_map_id:

[20]:

name:Fumarase deficiency

smpdb_id:SMP00547

kegg_map_id:

[21]:

name:Glutamate Metabolism

smpdb_id:SMP00072

kegg_map_id:map00250

[22]:

name:Glutaminolysis and Cancer

smpdb_id:SMP02298

kegg_map_id:

[23]:

name:Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)

smpdb_id:SMP00188

kegg_map_id:

[24]:

name:Homocarnosinosis

smpdb_id:SMP00385

kegg_map_id:

[25]:

name:Hyperinsulinism-Hyperammonemia Syndrome

smpdb_id:SMP00339

kegg_map_id:

[26]:

name:Hyperornithinemia with gyrate atrophy (HOGA)

smpdb_id:SMP00505

kegg_map_id:

[27]:

name:Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]

smpdb_id:SMP00506

kegg_map_id:

[28]:

name:Hyperprolinemia Type I

smpdb_id:SMP00361

kegg_map_id:

[29]:

name:Hyperprolinemia Type II

smpdb_id:SMP00360

kegg_map_id:

[30]:

name:Isobutyryl-coa dehydrogenase deficiency

smpdb_id:SMP00523

kegg_map_id:

[31]:

name:Isovaleric acidemia

smpdb_id:SMP00524

kegg_map_id:

[32]:

name:Isovaleric Aciduria

smpdb_id:SMP00238

kegg_map_id:

[33]:

name:Ketone Body Metabolism

smpdb_id:SMP00071

kegg_map_id:map00072

[34]:

name:L-arginine:glycine amidinotransferase deficiency

smpdb_id:SMP00507

kegg_map_id:

[35]:

name:Maple Syrup Urine Disease

smpdb_id:SMP00199

kegg_map_id:

[36]:

name:Methylmalonate Semialdehyde Dehydrogenase Deficiency

smpdb_id:SMP00384

kegg_map_id:

[37]:

name:Methylmalonic Aciduria

smpdb_id:SMP00200

kegg_map_id:

[38]:

name:Mitochondrial complex II deficiency

smpdb_id:SMP00548

kegg_map_id:

[39]:

name:Ornithine Aminotransferase Deficiency (OAT Deficiency)

smpdb_id:SMP00363

kegg_map_id:

[40]:

name:Oxidation of Branched Chain Fatty Acids

smpdb_id:SMP00030

kegg_map_id:

[41]:

name:Oxidative phosphorylation

smpdb_id:

kegg_map_id:map00190

[42]:

name:Phytanic Acid Peroxisomal Oxidation

smpdb_id:SMP00450

kegg_map_id:

[43]:

name:Prolidase Deficiency (PD)

smpdb_id:SMP00207

kegg_map_id:

[44]:

name:Prolinemia Type II

smpdb_id:SMP00208

kegg_map_id:

[45]:

name:Propionic Acidemia

smpdb_id:SMP00236

kegg_map_id:

[46]:

name:Pyruvate dehydrogenase deficiency (E2)

smpdb_id:SMP00551

kegg_map_id:

[47]:

name:Pyruvate dehydrogenase deficiency (E3)

smpdb_id:SMP00550

kegg_map_id:

[48]:

name:Refsum Disease

smpdb_id:SMP00451

kegg_map_id:

[49]:

name:Succinic semialdehyde dehydrogenase deficiency

smpdb_id:SMP00567

kegg_map_id:

[50]:

name:Succinyl CoA: 3-ketoacid CoA transferase deficiency

smpdb_id:SMP00569

kegg_map_id:

[51]:

name:The oncogenic action of 2-hydroxyglutarate

smpdb_id:SMP02291

kegg_map_id:

[52]:

name:The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria

smpdb_id:SMP02359

kegg_map_id:

[53]:

name:The Oncogenic Action of Fumarate

smpdb_id:SMP02295

kegg_map_id:

[54]:

name:The oncogenic action of L-2-hydroxyglutarate in Hydroxygluaricaciduria

smpdb_id:SMP02358

kegg_map_id:

[55]:

name:The Oncogenic Action of Succinate

smpdb_id:SMP02292

kegg_map_id:

[56]:

name:Valine, leucine and isoleucine degradation

smpdb_id:

kegg_map_id:map00280

[57]:

name:Warburg Effect

smpdb_id:SMP00654

kegg_map_id:

正常浓度
1:

biospecimen:Blood

concentration_value:16.0 (0.00-32.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

2:

biospecimen:Blood

concentration_value:23.5

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

3:

biospecimen:Blood

concentration_value:8.8 +/- 2.7

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

4:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

5:

biospecimen:Blood

concentration_value:6.10-11.5

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

6:

biospecimen:Breast Milk

concentration_value:8.4 +/- 2.9

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

7:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:47.2

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

8:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:19

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

9:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:150.0 +/- 110.0

concentration_units:uM

subject_age:Elderly (>65 years old)

subject_sex:Both

subject_condition:Normal

10:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:3 +/- 2

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

11:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:28.5 (24-33)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

12:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:3.0 +/- 2.0

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

13:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

14:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

15:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

16:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

17:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

18:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

19:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

20:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

21:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

22:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

23:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

24:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

25:

biospecimen:Feces

concentration_value:132.528 +/- 151.836

concentration_units:nmol/g wet feces

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

26:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

27:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

28:

biospecimen:Feces

concentration_value:1633.528 +/- 1822.370

concentration_units:nmol/g wet feces

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

29:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

30:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Children (6 - 18 years old)

subject_sex:Not Specified

subject_condition:Normal

31:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

32:

biospecimen:Feces

concentration_value:255

concentration_units:nmol/g wet feces

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

33:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

34:

biospecimen:Feces

concentration_value:222

concentration_units:nmol/g wet feces

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

35:

biospecimen:Feces

concentration_value:250

concentration_units:nmol/g wet feces

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

36:

biospecimen:Saliva

concentration_value:125.15 +/- 180.60

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

37:

biospecimen:Saliva

concentration_value:2260 (60.0-4460)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

38:

biospecimen:Saliva

concentration_value:14 (2-112)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

39:

biospecimen:Saliva

concentration_value:9 (1-78)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

40:

biospecimen:Saliva

concentration_value:21 (<1-66)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

41:

biospecimen:Saliva

concentration_value:9 (<1-54)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

42:

biospecimen:Saliva

concentration_value:9.03 +/- 5.22

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

43:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

44:

biospecimen:Saliva

concentration_value:15.0 +/- 15.5

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

45:

biospecimen:Saliva

concentration_value:15.6 +/- 27.7

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

46:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

47:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

48:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

49:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

50:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

51:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

52:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

53:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

54:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

55:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

56:

biospecimen:Saliva

concentration_value:24.3 +/- 20.4

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

57:

biospecimen:Saliva

concentration_value:4-145

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

58:

biospecimen:Saliva

concentration_value:1-33

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

59:

biospecimen:Sweat

concentration_value:

concentration_units:

subject_age:Adult

subject_sex:Both

subject_condition:Normal

60:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

61:

biospecimen:Urine

concentration_value:4.7 (1.1-14.5)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

62:

biospecimen:Urine

concentration_value:9.4 +/- 9.2

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

63:

biospecimen:Urine

concentration_value:4.35-81.2

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

64:

biospecimen:Urine

concentration_value:16.99(5.66-67.50)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Female

subject_condition:Normal

65:

biospecimen:Urine

concentration_value:16.76(3.97-85.17)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Male

subject_condition:Normal

66:

biospecimen:Urine

concentration_value:12.60 +/- 12.13

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

67:

biospecimen:Urine

concentration_value:14.48 +/- 3.20

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

68:

biospecimen:Urine

concentration_value:<76

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

69:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

70:

biospecimen:Urine

concentration_value:7.7 (1.9-20.0)

concentration_units:umol/mmol creatinine

subject_age:Adolescent (13-18 years old)

subject_sex:Both

subject_condition:Normal

71:

biospecimen:Urine

concentration_value:3.8 (1.25-6.7)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

72:

biospecimen:Urine

concentration_value:11.9-24.1

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Female

subject_condition:Normal

73:

biospecimen:Urine

concentration_value:15.7-69.5

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Male

subject_condition:Normal

74:

biospecimen:Urine

concentration_value:20.2-49.6

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Female

subject_condition:Normal

75:

biospecimen:Urine

concentration_value:22.0-42.0

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Male

subject_condition:Normal

76:

biospecimen:Urine

concentration_value:110

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

77:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

78:

biospecimen:Urine

concentration_value:1.4-2.3

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

79:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

80:

biospecimen:Urine

concentration_value:14.581 +/- 9.663

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

81:

biospecimen:Urine

concentration_value:2.10

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

82:

biospecimen:Urine

concentration_value:<87.14

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 18 years old)

subject_sex:Both

subject_condition:Normal

83:

biospecimen:Urine

concentration_value:9.9 +/- 5.0

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

84:

biospecimen:Urine

concentration_value:14.4 +/- 4.9

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

85:

biospecimen:Urine

concentration_value:7.5 (0.5-16)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

86:

biospecimen:Urine

concentration_value:6.0 (0.3-33.3)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

87:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

88:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

89:

biospecimen:Urine

concentration_value:5.6 +/- 3.8

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

90:

biospecimen:Urine

concentration_value:197.2 (29.4-486.2)

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

91:

biospecimen:Urine

concentration_value:185.4 (6.0-342.6)

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

92:

biospecimen:Urine

concentration_value:11.6 (4.0-27.3)

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

93:

biospecimen:Urine

concentration_value:8.25 (0.5-16.0)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

94:

biospecimen:Urine

concentration_value:1.4-1.7

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

95:

biospecimen:Urine

concentration_value:163.491 +/- 191.759

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

96:

biospecimen:Urine

concentration_value:<335.0976

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Male

subject_condition:Normal

97:

biospecimen:Urine

concentration_value:1.915-71.807

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Male

subject_condition:Normal

98:

biospecimen:Urine

concentration_value:1.3

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

99:

biospecimen:Urine

concentration_value:<97

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

100:

biospecimen:Urine

concentration_value:9-360

concentration_units:umol/mmol creatinine

subject_age:Newborn (0-30 days old)

subject_sex:Both

subject_condition:Normal

101:

biospecimen:Urine

concentration_value:6.2 (2.5-13.5)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

异常浓度
1:

biospecimen:Blood

concentration_value:5.3 (5.6)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Down syndrome pregnancy

2:

biospecimen:Blood

concentration_value:5.6 (12.5)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

3:

biospecimen:Blood

concentration_value:6.90 +/- 6.33

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy with fetuses with trisomy 18

4:

biospecimen:Blood

concentration_value:6.50 +/- 10.83

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

5:

biospecimen:Blood

concentration_value:4.3 (1.6)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Early preeclampsia

6:

biospecimen:Blood

concentration_value:12.4 (13.9)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

7:

biospecimen:Blood

concentration_value:3.35 (1.78)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy with fetus having congenital heart defect

8:

biospecimen:Blood

concentration_value:3.31 (1.13)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Pregnancy

9:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:19.0 (0.0-38.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Canavan Disease

10:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:55.0 (19.0-91.0)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Alzheimer's disease

11:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Gout

12:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

13:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal Cancer

14:

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

15:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Not Specified

patient_sex:Not Specified

patient_information:Cryptosporidium infection

16:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Myalgic encephalomyelitis/chronic fatigue syndrome

17:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

18:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Irritable bowel syndrome

19:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Ulcerative colitis

20:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Children (6 - 18 years old)

patient_sex:Not Specified

patient_information:Crohns disease

21:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Children (6 - 18 years old)

patient_sex:Not Specified

patient_information:Ulcerative colitis

22:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Children (6 - 18 years old)

patient_sex:Not Specified

patient_information:Unclassified IBD

23:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal Cancer

24:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Crohn's disease

25:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Attachment loss 

26:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Missing teeth

27:

biospecimen:Saliva

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Periodontal Probing Depth

28:

biospecimen:Urine

concentration_value:749-784

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:D-2-hydroxyglutaric aciduria

29:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Epithelial ovarian cancer

30:

biospecimen:Urine

concentration_value:75-185

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:2-Ketoglutarate dehydrogenase complex deficiency

31:

biospecimen:Urine

concentration_value:43.35 +/- 25.08

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Malnutrition (type kwashiorkor and marasmus)

32:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Bladder cancer

33:

biospecimen:Urine

concentration_value:27.897 +/- 29.998

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Eosinophilic esophagitis

34:

biospecimen:Urine

concentration_value:9.0 +/- 6.0

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Lung cancer

35:

biospecimen:Urine

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

36:

biospecimen:Urine

concentration_value:4.787

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Male

patient_information:D-2-Hydroxyglutaric aciduria

37:

biospecimen:Urine

concentration_value:467.612 +/- 705.456

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Eosinophilic esophagitis

38:

biospecimen:Urine

concentration_value:6.667

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Male

patient_information:D-2-Hydroxyglutaric aciduria

39:

biospecimen:Urine

concentration_value:530.857 +/- 876.714

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Gastroesophageal reflux disease

40:

biospecimen:Urine

concentration_value:50

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Malonyl-Coa decarboxylase deficiency

41:

biospecimen:Urine

concentration_value:86.168

concentration_units:umol/mmol creatinine

patient_age:Children (1 - 13 years old)

patient_sex:Male

patient_information:D-2-Hydroxyglutaric aciduria

42:

biospecimen:Urine

concentration_value:141.698

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Male

patient_information:Fumarase deficiency

43:

biospecimen:Urine

concentration_value:15

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Lipoyltransferase 1 Deficiency

疾病参考
1:

name:Early preeclampsia

omim_id:

[1]:

reference_text:Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28.

pubmed_id:22494326

2:

name:Pregnancy

omim_id:

[1]:

reference_text:Yang XL, Wu XR: The dynamic changes of several reproductive hormones during termination of early pregnancy by RU486 in combination with PG-05 in Chinese women. Adv Contracept. 1988 Dec;4(4):319-26.

pubmed_id:3252730

[2]:

reference_text:Ball P, Emons G, Haupt O, Hoppen HO, Knuppen R: Radioimmunoassay of 2-hydroxyestrone. Steroids. 1978 Feb;31(2):249-58.

pubmed_id:663967

[3]:

reference_text:Yang YJ, Lee J, Choi MH, Chung BC: Direct determination of estriol 3- and 16-glucuronides in pregnancy urine by column-switching liquid chromatography with electrospray tandem mass spectrometry. Biomed Chromatogr. 2003 Jun;17(4):219-25.

pubmed_id:12833386

[4]:

reference_text:Andreolini F, Borra C, Caccamo F, Di Corcia A, Nicoletti I, Samperi R, Improta F: Estriol and its conjugates in late pregnancy determined by extraction with Carbopack B and liquid chromatography with fluorometric detection. Clin Chem. 1985 Oct;31(10):1698-702.

pubmed_id:2994907

[5]:

reference_text:Huang PC, Kuo PL, Guo YL, Liao PC, Lee CC: Associations between urinary phthalate monoesters and thyroid hormones in pregnant women. Hum Reprod. 2007 Oct;22(10):2715-22. Epub 2007 Aug 17.

pubmed_id:17704099

[6]:

reference_text:Ribar S, Mesaric M, Sedic M: Sphingoid bases as possible diagnostic parameters. Croat Med J. 2003 Apr;44(2):165-70.

pubmed_id:12698507

[7]:

reference_text:Khan HA, Sobki SH, Alhomida AS: Fluctuations in fasting blood glucose and serum fructosamine in pregnant women monitored on successive antenatal visits. Clin Exp Med. 2006 Oct;6(3):134-7.

pubmed_id:17061063

[8]:

reference_text:Mikkelsen TB, Osler M, Olsen SF: Validity of protein, retinol, folic acid and n-3 fatty acid intakes estimated from the food-frequency questionnaire used in the Danish National Birth Cohort. Public Health Nutr. 2006 Sep;9(6):771-8.

pubmed_id:16925883

[9]:

reference_text:Shiraishi M, Haruna M, Matsuzaki M, Murayama R, Sasaki S, Murashima S: Validity and reproducibility of folate and vitamin B(12) intakes estimated from a self-administered diet history questionnaire in Japanese pregnant women. Nutr J. 2012 Mar 15;11:15. doi: 10.1186/1475-2891-11-15.

pubmed_id:22420377

[10]:

reference_text:Brantsaeter AL, Haugen M, Julshamn K, Alexander J, Meltzer HM: Evaluation of urinary iodine excretion as a biomarker for intake of milk and dairy products in pregnant women in the Norwegian Mother and Child Cohort Study (MoBa). Eur J Clin Nutr. 2009 Mar;63(3):347-54. Epub 2007 Dec 5.

pubmed_id:18059417

[11]:

reference_text:Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28.

pubmed_id:22494326

[12]:

reference_text:Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13.

pubmed_id:23159745

[13]:

reference_text:Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8.

pubmed_id:23313728

[14]:

reference_text:Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25.

pubmed_id:23535240

[15]:

reference_text:Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1.

pubmed_id:24704061

[16]:

reference_text:The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999.

pubmed_id:

3:

name:Canavan disease

omim_id:271900

[1]:

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

[2]:

reference_text:Rothstein JD, Tsai G, Kuncl RW, Clawson L, Cornblath DR, Drachman DB, Pestronk A, Stauch BL, Coyle JT: Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis. Ann Neurol. 1990 Jul;28(1):18-25.

pubmed_id:2375630

[3]:

reference_text:Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB: N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr. 1999 May;158(5):406-9.

pubmed_id:10333125

[4]:

reference_text:Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1.

pubmed_id:16139832

[5]:

reference_text:Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E: N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease. Adv Exp Med Biol. 2006;576:353-9; discussion 361-3. doi: 10.1007/0-387-30172-0_26.

pubmed_id:16802726

[6]:

reference_text:Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.

pubmed_id:3354621

[7]:

reference_text:Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M: SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis. 1989;12 Suppl 2:329-31.

pubmed_id:2512436

4:

name:Alzheimer's disease

omim_id:104300

[1]:

reference_text:Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10.

pubmed_id:17031479

[2]:

reference_text:Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8.

pubmed_id:11959400

[3]:

reference_text:Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302.

pubmed_id:8595727

[4]:

reference_text:Jia JP, Jia JM, Zhou WD, Xu M, Chu CB, Yan X, Sun YX: Differential acetylcholine and choline concentrations in the cerebrospinal fluid of patients with Alzheimer's disease and vascular dementia. Chin Med J (Engl). 2004 Aug;117(8):1161-4.

pubmed_id:15361288

[5]:

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

[6]:

reference_text:Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303.

pubmed_id:15465626

[7]:

reference_text:Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91.

pubmed_id:15061359

[8]:

reference_text:Raskind MA, Peskind ER, Holmes C, Goldstein DS: Patterns of cerebrospinal fluid catechols support increased central noradrenergic responsiveness in aging and Alzheimer's disease. Biol Psychiatry. 1999 Sep 15;46(6):756-65.

pubmed_id:10494443

[9]:

reference_text:Lovell MA, Markesbery WR: Ratio of 8-hydroxyguanine in intact DNA to free 8-hydroxyguanine is increased in Alzheimer disease ventricular cerebrospinal fluid. Arch Neurol. 2001 Mar;58(3):392-6.

pubmed_id:11255442

[10]:

reference_text:Bar KJ, Franke S, Wenda B, Muller S, Kientsch-Engel R, Stein G, Sauer H: Pentosidine and N(epsilon)-(carboxymethyl)-lysine in Alzheimer's disease and vascular dementia. Neurobiol Aging. 2003 Mar-Apr;24(2):333-8.

pubmed_id:12498967

[11]:

reference_text:Serot JM, Barbe F, Arning E, Bottiglieri T, Franck P, Montagne P, Nicolas JP: Homocysteine and methylmalonic acid concentrations in cerebrospinal fluid: relation with age and Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1585-7.

pubmed_id:16227558

[12]:

reference_text:Molina JA, Jimenez-Jimenez FJ, Aguilar MV, Meseguer I, Mateos-Vega CJ, Gonzalez-Munoz MJ, de Bustos F, Porta J, Orti-Pareja M, Zurdo M, Barrios E, Martinez-Para MC: Cerebrospinal fluid levels of transition metals in patients with Alzheimer's disease. J Neural Transm (Vienna). 1998;105(4-5):479-88.

pubmed_id:9720975

[13]:

reference_text:Molina JA, Jimenez-Jimenez FJ, Hernanz A, Fernandez-Vivancos E, Medina S, de Bustos F, Gomez-Escalonilla C, Sayed Y: Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease. J Neural Transm (Vienna). 2002 Jul;109(7-8):1035-44.

pubmed_id:12111441

[14]:

reference_text:Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203.

pubmed_id:16244393

[15]:

reference_text:Kristensen MO, Gulmann NC, Christensen JE, Ostergaard K, Rasmussen K: Serum cobalamin and methylmalonic acid in Alzheimer dementia. Acta Neurol Scand. 1993 Jun;87(6):475-81.

pubmed_id:8356878

[16]:

reference_text:Abe T, Tohgi H, Isobe C, Murata T, Sato C: Remarkable increase in the concentration of 8-hydroxyguanosine in cerebrospinal fluid from patients with Alzheimer's disease. J Neurosci Res. 2002 Nov 1;70(3):447-50.

pubmed_id:12391605

[17]:

reference_text:Reichman ME, Judd JT, Longcope C, Schatzkin A, Clevidence BA, Nair PP, Campbell WS, Taylor PR: Effects of alcohol consumption on plasma and urinary hormone concentrations in premenopausal women. J Natl Cancer Inst. 1993 May 5;85(9):722-7.

pubmed_id:8478958

[18]:

reference_text:Hozumi I, Hasegawa T, Honda A, Ozawa K, Hayashi Y, Hashimoto K, Yamada M, Koumura A, Sakurai T, Kimura A, Tanaka Y, Satoh M, Inuzuka T: Patterns of levels of biological metals in CSF differ among neurodegenerative diseases. J Neurol Sci. 2011 Apr 15;303(1-2):95-9. doi: 10.1016/j.jns.2011.01.003. Epub 2011 Feb 2.

pubmed_id:21292280

[19]:

reference_text:Motawaj M, Peoc'h K, Callebert J, Arrang JM: CSF levels of the histamine metabolite tele-methylhistamine are only slightly decreased in Alzheimer's disease. J Alzheimers Dis. 2010;22(3):861-71. doi: 10.3233/JAD-2010-100381.

pubmed_id:20858978

[20]:

reference_text:Smach MA, Jacob N, Golmard JL, Charfeddine B, Lammouchi T, Ben Othman L, Dridi H, Bennamou S, Limem K: Folate and homocysteine in the cerebrospinal fluid of patients with Alzheimer's disease or dementia: a case control study. Eur Neurol. 2011;65(5):270-8. doi: 10.1159/000326301. Epub 2011 Apr 8.

pubmed_id:21474939

[21]:

reference_text:Linnebank M, Popp J, Smulders Y, Smith D, Semmler A, Farkas M, Kulic L, Cvetanovska G, Blom H, Stoffel-Wagner B, Kolsch H, Weller M, Jessen F: S-adenosylmethionine is decreased in the cerebrospinal fluid of patients with Alzheimer's disease. Neurodegener Dis. 2010;7(6):373-8. doi: 10.1159/000309657. Epub 2010 Jun 3.

pubmed_id:20523031

[22]:

reference_text:Rosler N, Wichart I, Jellinger KA: Clinical significance of neurobiochemical profiles in the lumbar cerebrospinal fluid of Alzheimer's disease patients. J Neural Transm (Vienna). 2001;108(2):231-46.

pubmed_id:11314776

[23]:

reference_text:Sunderland T, Berrettini WH, Molchan SE, Lawlor BA, Martinez RA, Vitiello B, Tariot PN, Cohen RM: Reduced cerebrospinal fluid dynorphin A1-8 in Alzheimer's disease. Biol Psychiatry. 1991 Jul 1;30(1):81-7.

pubmed_id:1716470

[24]:

reference_text:Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6.

pubmed_id:23857558

5:

name:Irritable bowel syndrome

omim_id:

[1]:

reference_text:Bearcroft CP, Perrett D, Farthing MJ: Postprandial plasma 5-hydroxytryptamine in diarrhoea predominant irritable bowel syndrome: a pilot study. Gut. 1998 Jan;42(1):42-6.

pubmed_id:9505884

[2]:

reference_text:Brydon WG, Nyhlin H, Eastwood MA, Merrick MV: Serum 7 alpha-hydroxy-4-cholesten-3-one and selenohomocholyltaurine (SeHCAT) whole body retention in the assessment of bile acid induced diarrhoea. Eur J Gastroenterol Hepatol. 1996 Feb;8(2):117-23.

pubmed_id:8723414

[3]:

reference_text:Ponnusamy K, Choi JN, Kim J, Lee SY, Lee CH: Microbial community and metabolomic comparison of irritable bowel syndrome faeces. J Med Microbiol. 2011 Jun;60(Pt 6):817-27. doi: 10.1099/jmm.0.028126-0. Epub 2011 Feb 17.

pubmed_id:21330412

[4]:

reference_text:Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8.

pubmed_id:21761941

[5]:

reference_text:Hong YS, Hong KS, Park MH, Ahn YT, Lee JH, Huh CS, Lee J, Kim IK, Hwang GS, Kim JS: Metabonomic understanding of probiotic effects in humans with irritable bowel syndrome. J Clin Gastroenterol. 2011 May-Jun;45(5):415-25. doi: 10.1097/MCG.0b013e318207f76c.

pubmed_id:21494186

[6]:

reference_text:Walton C, Fowler DP, Turner C, Jia W, Whitehead RN, Griffiths L, Dawson C, Waring RH, Ramsden DB, Cole JA, Cauchi M, Bessant C, Hunter JO: Analysis of volatile organic compounds of bacterial origin in chronic gastrointestinal diseases. Inflamm Bowel Dis. 2013 Sep;19(10):2069-78. doi: 10.1097/MIB.0b013e31829a91f6.

pubmed_id:23867873

[7]:

reference_text:Zeber-Lubecka N, Kulecka M, Ambrozkiewicz F, Paziewska A, Goryca K, Karczmarski J, Rubel T, Wojtowicz W, Mlynarz P, Marczak L, Tomecki R, Mikula M, Ostrowski J: Limited prolonged effects of rifaximin treatment on irritable bowel syndrome-related differences in the fecal microbiome and metabolome. Gut Microbes. 2016 Sep 2;7(5):397-413. doi: 10.1080/19490976.2016.1215805. Epub 2016 Jul 26.

pubmed_id:27662586

6:

name:Ulcerative colitis

omim_id:

[1]:

reference_text:Knox C, Law V, Jewison T, Liu P, Ly S, Frolkis A, Pon A, Banco K, Mak C, Neveu V, Djoumbou Y, Eisner R, Guo AC, Wishart DS: DrugBank 3.0: a comprehensive resource for 'omics' research on drugs. Nucleic Acids Res. 2011 Jan;39(Database issue):D1035-41. doi: 10.1093/nar/gkq1126. Epub 2010 Nov 8.

pubmed_id:21059682

[2]:

reference_text:Almer S, Andersson T, Strom M: Pharmacokinetics of tranexamic acid in patients with ulcerative colitis and in healthy volunteers after the single instillation of 2 g rectally. J Clin Pharmacol. 1992 Jan;32(1):49-54.

pubmed_id:1740537

[3]:

reference_text:Marchesi JR, Holmes E, Khan F, Kochhar S, Scanlan P, Shanahan F, Wilson ID, Wang Y: Rapid and noninvasive metabonomic characterization of inflammatory bowel disease. J Proteome Res. 2007 Feb;6(2):546-51.

pubmed_id:17269711

[4]:

reference_text:Garner CE, Smith S, de Lacy Costello B, White P, Spencer R, Probert CS, Ratcliffe NM: Volatile organic compounds from feces and their potential for diagnosis of gastrointestinal disease. FASEB J. 2007 Jun;21(8):1675-88. Epub 2007 Feb 21.

pubmed_id:17314143

[5]:

reference_text:Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8.

pubmed_id:21761941

[6]:

reference_text:Ahmed I, Greenwood R, Costello Bde L, Ratcliffe NM, Probert CS: An investigation of fecal volatile organic metabolites in irritable bowel syndrome. PLoS One. 2013;8(3):e58204. doi: 10.1371/journal.pone.0058204. Epub 2013 Mar 13.

pubmed_id:23516449

[7]:

reference_text:Walton C, Fowler DP, Turner C, Jia W, Whitehead RN, Griffiths L, Dawson C, Waring RH, Ramsden DB, Cole JA, Cauchi M, Bessant C, Hunter JO: Analysis of volatile organic compounds of bacterial origin in chronic gastrointestinal diseases. Inflamm Bowel Dis. 2013 Sep;19(10):2069-78. doi: 10.1097/MIB.0b013e31829a91f6.

pubmed_id:23867873

[8]:

reference_text:De Preter V, Machiels K, Joossens M, Arijs I, Matthys C, Vermeire S, Rutgeerts P, Verbeke K: Faecal metabolite profiling identifies medium-chain fatty acids as discriminating compounds in IBD. Gut. 2015 Mar;64(3):447-58. doi: 10.1136/gutjnl-2013-306423. Epub 2014 May 8.

pubmed_id:24811995

[9]:

reference_text:Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1.

pubmed_id:25598765

[10]:

reference_text:Ahmed I, Greenwood R, Costello B, Ratcliffe N, Probert CS: Investigation of faecal volatile organic metabolites as novel diagnostic biomarkers in inflammatory bowel disease. Aliment Pharmacol Ther. 2016 Mar;43(5):596-611. doi: 10.1111/apt.13522. Epub 2016 Jan 25.

pubmed_id:26806034

[11]:

reference_text:Lee T, Clavel T, Smirnov K, Schmidt A, Lagkouvardos I, Walker A, Lucio M, Michalke B, Schmitt-Kopplin P, Fedorak R, Haller D: Oral versus intravenous iron replacement therapy distinctly alters the gut microbiota and metabolome in patients with IBD. Gut. 2017 May;66(5):863-871. doi: 10.1136/gutjnl-2015-309940. Epub 2016 Feb 4.

pubmed_id:26848182

[12]:

reference_text:Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158.

pubmed_id:27609529

[13]:

reference_text:Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M: Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 Aug 25;7(1):9473. doi: 10.1038/s41598-017-09958-9.

pubmed_id:28842642

7:

name:Crohn's disease

omim_id:266600

[1]:

reference_text:Lapidus A, Akerlund JE, Einarsson C: Gallbladder bile composition in patients with Crohn 's disease. World J Gastroenterol. 2006 Jan 7;12(1):70-4.

pubmed_id:16440420

[2]:

reference_text:Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40.

pubmed_id:11418788

[3]:

reference_text:Brydon WG, Nyhlin H, Eastwood MA, Merrick MV: Serum 7 alpha-hydroxy-4-cholesten-3-one and selenohomocholyltaurine (SeHCAT) whole body retention in the assessment of bile acid induced diarrhoea. Eur J Gastroenterol Hepatol. 1996 Feb;8(2):117-23.

pubmed_id:8723414

[4]:

reference_text:Williams HR, Cox IJ, Walker DG, North BV, Patel VM, Marshall SE, Jewell DP, Ghosh S, Thomas HJ, Teare JP, Jakobovits S, Zeki S, Welsh KI, Taylor-Robinson SD, Orchard TR: Characterization of inflammatory bowel disease with urinary metabolic profiling. Am J Gastroenterol. 2009 Jun;104(6):1435-44. doi: 10.1038/ajg.2009.175. Epub 2009 Apr 28.

pubmed_id:19491857

[5]:

reference_text:Marchesi JR, Holmes E, Khan F, Kochhar S, Scanlan P, Shanahan F, Wilson ID, Wang Y: Rapid and noninvasive metabonomic characterization of inflammatory bowel disease. J Proteome Res. 2007 Feb;6(2):546-51.

pubmed_id:17269711

[6]:

reference_text:Ahmed I, Greenwood R, Costello Bde L, Ratcliffe NM, Probert CS: An investigation of fecal volatile organic metabolites in irritable bowel syndrome. PLoS One. 2013;8(3):e58204. doi: 10.1371/journal.pone.0058204. Epub 2013 Mar 13.

pubmed_id:23516449

[7]:

reference_text:Walton C, Fowler DP, Turner C, Jia W, Whitehead RN, Griffiths L, Dawson C, Waring RH, Ramsden DB, Cole JA, Cauchi M, Bessant C, Hunter JO: Analysis of volatile organic compounds of bacterial origin in chronic gastrointestinal diseases. Inflamm Bowel Dis. 2013 Sep;19(10):2069-78. doi: 10.1097/MIB.0b013e31829a91f6.

pubmed_id:23867873

[8]:

reference_text:De Preter V, Machiels K, Joossens M, Arijs I, Matthys C, Vermeire S, Rutgeerts P, Verbeke K: Faecal metabolite profiling identifies medium-chain fatty acids as discriminating compounds in IBD. Gut. 2015 Mar;64(3):447-58. doi: 10.1136/gutjnl-2013-306423. Epub 2014 May 8.

pubmed_id:24811995

[9]:

reference_text:Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1.

pubmed_id:25598765

[10]:

reference_text:Ahmed I, Greenwood R, Costello B, Ratcliffe N, Probert CS: Investigation of faecal volatile organic metabolites as novel diagnostic biomarkers in inflammatory bowel disease. Aliment Pharmacol Ther. 2016 Mar;43(5):596-611. doi: 10.1111/apt.13522. Epub 2016 Jan 25.

pubmed_id:26806034

[11]:

reference_text:Lee T, Clavel T, Smirnov K, Schmidt A, Lagkouvardos I, Walker A, Lucio M, Michalke B, Schmitt-Kopplin P, Fedorak R, Haller D: Oral versus intravenous iron replacement therapy distinctly alters the gut microbiota and metabolome in patients with IBD. Gut. 2017 May;66(5):863-871. doi: 10.1136/gutjnl-2015-309940. Epub 2016 Feb 4.

pubmed_id:26848182

[12]:

reference_text:Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158.

pubmed_id:27609529

[13]:

reference_text:Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M: Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 Aug 25;7(1):9473. doi: 10.1038/s41598-017-09958-9.

pubmed_id:28842642

8:

name:Gout

omim_id:138900

[1]:

reference_text:Shao T, Shao L, Li H, Xie Z, He Z, Wen C: Combined Signature of the Fecal Microbiome and Metabolome in Patients with Gout. Front Microbiol. 2017 Feb 21;8:268. doi: 10.3389/fmicb.2017.00268. eCollection 2017.

pubmed_id:28270806

[2]:

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

pubmed_id:

9:

name:Attachment loss

omim_id:

[1]:

reference_text:Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26.

pubmed_id:31026179

10:

name:Missing teeth

omim_id:

[1]:

reference_text:Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26.

pubmed_id:31026179

11:

name:Periodontal Probing Depth

omim_id:

[1]:

reference_text:Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26.

pubmed_id:31026179

12:

name:Lung Cancer

omim_id:211980

[1]:

reference_text:Stretch C, Eastman T, Mandal R, Eisner R, Wishart DS, Mourtzakis M, Prado CM, Damaraju S, Ball RO, Greiner R, Baracos VE: Prediction of skeletal muscle and fat mass in patients with advanced cancer using a metabolomic approach. J Nutr. 2012 Jan;142(1):14-21. doi: 10.3945/jn.111.147751. Epub 2011 Dec 7.

pubmed_id:22157537

[2]:

reference_text:Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 Jan;37(Database issue):D603-10. doi: 10.1093/nar/gkn810. Epub 2008 Oct 25.

pubmed_id:18953024

[3]:

reference_text:Chen Y, Ma Z, Min L, Li H, Wang B, Zhong J, Dai L: Biomarker identification and pathway analysis by serum metabolomics of lung cancer. Biomed Res Int. 2015;2015:183624. doi: 10.1155/2015/183624. Epub 2015 Apr 16.

pubmed_id:25961003

13:

name:Eosinophilic esophagitis

omim_id:610247

[1]:

reference_text:Mordechai, Hien, and David S. Wishart

pubmed_id:

14:

name:Colorectal cancer

omim_id:114500

[1]:

reference_text:Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8.

pubmed_id:7482520

[2]:

reference_text:Monleon D, Morales JM, Barrasa A, Lopez JA, Vazquez C, Celda B: Metabolite profiling of fecal water extracts from human colorectal cancer. NMR Biomed. 2009 Apr;22(3):342-8. doi: 10.1002/nbm.1345.

pubmed_id:19006102

[3]:

reference_text:Weir TL, Manter DK, Sheflin AM, Barnett BA, Heuberger AL, Ryan EP: Stool microbiome and metabolome differences between colorectal cancer patients and healthy adults. PLoS One. 2013 Aug 6;8(8):e70803. doi: 10.1371/journal.pone.0070803. Print 2013.

pubmed_id:23940645

[4]:

reference_text:Phua LC, Chue XP, Koh PK, Cheah PY, Ho HK, Chan EC: Non-invasive fecal metabonomic detection of colorectal cancer. Cancer Biol Ther. 2014 Apr;15(4):389-97. doi: 10.4161/cbt.27625. Epub 2014 Jan 14.

pubmed_id:24424155

[5]:

reference_text:Ritchie SA, Ahiahonu PW, Jayasinghe D, Heath D, Liu J, Lu Y, Jin W, Kavianpour A, Yamazaki Y, Khan AM, Hossain M, Su-Myat KK, Wood PL, Krenitsky K, Takemasa I, Miyake M, Sekimoto M, Monden M, Matsubara H, Nomura F, Goodenowe DB: Reduced levels of hydroxylated, polyunsaturated ultra long-chain fatty acids in the serum of colorectal cancer patients: implications for early screening and detection. BMC Med. 2010 Feb 15;8:13. doi: 10.1186/1741-7015-8-13.

pubmed_id:20156336

[6]:

reference_text:Qiu Y, Cai G, Su M, Chen T, Zheng X, Xu Y, Ni Y, Zhao A, Xu LX, Cai S, Jia W: Serum metabolite profiling of human colorectal cancer using GC-TOFMS and UPLC-QTOFMS. J Proteome Res. 2009 Oct;8(10):4844-50. doi: 10.1021/pr9004162.

pubmed_id:19678709

[7]:

reference_text:Cheng Y, Xie G, Chen T, Qiu Y, Zou X, Zheng M, Tan B, Feng B, Dong T, He P, Zhao L, Zhao A, Xu LX, Zhang Y, Jia W: Distinct urinary metabolic profile of human colorectal cancer. J Proteome Res. 2012 Feb 3;11(2):1354-63. doi: 10.1021/pr201001a. Epub 2011 Dec 28.

pubmed_id:22148915

[8]:

reference_text:Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14.

pubmed_id:25105552

[9]:

reference_text:Ikeda A, Nishiumi S, Shinohara M, Yoshie T, Hatano N, Okuno T, Bamba T, Fukusaki E, Takenawa T, Azuma T, Yoshida M: Serum metabolomics as a novel diagnostic approach for gastrointestinal cancer. Biomed Chromatogr. 2012 May;26(5):548-58. doi: 10.1002/bmc.1671. Epub 2011 Jul 20.

pubmed_id:21773981

[10]:

reference_text:Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18.

pubmed_id:25037050

[11]:

reference_text:Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016.

pubmed_id:27015276

[12]:

reference_text:Lin Y, Ma C, Liu C, Wang Z, Yang J, Liu X, Shen Z, Wu R: NMR-based fecal metabolomics fingerprinting as predictors of earlier diagnosis in patients with colorectal cancer. Oncotarget. 2016 May 17;7(20):29454-64. doi: 10.18632/oncotarget.8762.

pubmed_id:27107423

[13]:

reference_text:Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016.

pubmed_id:27275383

[14]:

reference_text:Wang X, Wang J, Rao B, Deng L: Gut flora profiling and fecal metabolite composition of colorectal cancer patients and healthy individuals. Exp Ther Med. 2017 Jun;13(6):2848-2854. doi: 10.3892/etm.2017.4367. Epub 2017 Apr 20.

pubmed_id:28587349

[15]:

reference_text:Silke Matysik, Caroline Ivanne Le Roy, Gerhard Liebisch, Sandrine Paule Claus. Metabolomics of fecal samples: A practical consideration. Trends in Food Science & Technology. Vol. 57, Part B, Nov. 2016, p.244-255: http://www.sciencedirect.com/science/article/pii/S0924224416301984

15:

name:D-2-hydroxyglutaric aciduria

omim_id:600721

[1]:

reference_text:Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C: Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993 Sep;34(3):277-80.

pubmed_id:8134166

[2]:

reference_text:Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP, Hey E, Ogilvie D: D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis. 1980;3(1):11-5.

pubmed_id:6774165

[3]:

reference_text:Wajne M, Vargas CR, Funayama C, Fernandez A, Elias ML, Goodman SI, Jakobs C, van der Knaap MS: D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. J Inherit Metab Dis. 2002 Feb;25(1):28-34.

pubmed_id:11999977

[4]:

reference_text:Geerts Y, Renier WO, Bakkeren J, de Jong J: 2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci. 1996 Nov;143(1-2):166-9.

pubmed_id:8981317

[5]:

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

pubmed_id:

16:

name:Malonyl-Coa decarboxylase deficiency

omim_id:248360

[1]:

reference_text:Santer R, Fingerhut R, Lassker U, Wightman PJ, Fitzpatrick DR, Olgemoller B, Roscher AA: Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clin Chem. 2003 Apr;49(4):660-2.

pubmed_id:12651823

[2]:

reference_text:Ficicioglu C, Chrisant MR, Payan I, Chace DH: Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. Pediatr Cardiol. 2005 Nov-Dec;26(6):881-3.

pubmed_id:16078122

[3]:

reference_text:Polinati PP, Valanne L, Tyni T: Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations. Brain Dev. 2015 Jan;37(1):107-13. doi: 10.1016/j.braindev.2014.02.001. Epub 2014 Mar 7.

pubmed_id:24613099

[4]:

reference_text:Haan EA, Scholem RD, Croll HB, Brown GK: Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr. 1986 Apr;144(6):567-70.

pubmed_id:3709568

[5]:

reference_text:Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC: A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Eur J Pediatr. 1997 May;156(5):382-3.

pubmed_id:9177981

[6]:

reference_text:Matalon R, Michaels K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thorburn D: Malonic aciduria and cardiomyopathy. J Inherit Metab Dis. 1993;16(3):571-3.

pubmed_id:7609455

[7]:

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

pubmed_id:

17:

name:Fumarase deficiency

omim_id:606812

[1]:

reference_text:Bastug O, Kardas F, Ozturk MA, Halis H, Memur S, Korkmaz L, Tag Z, Gunes T: A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey. Turk Pediatri Ars. 2014 Mar 1;49(1):74-6. doi: 10.5152/tpa.2014.442. eCollection 2014 Mar.

pubmed_id:26078636

[2]:

reference_text:Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML: Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15.

pubmed_id:20549362

[3]:

reference_text:Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ: Fumarase deficiency in dichorionic diamniotic twins. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4.

pubmed_id:24182348

[4]:

reference_text:Whelan DT, Hill RE, McClorry S: Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment. Clin Chim Acta. 1983 Aug 31;132(3):301-8.

pubmed_id:6616883

[5]:

reference_text:Maradin M, Fumic K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Baric I: Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations. J Inherit Metab Dis. 2006 Oct;29(5):683. Epub 2006 Aug 5.

pubmed_id:16972175

[6]:

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

pubmed_id:

18:

name:2-Ketoglutarate dehydrogenase complex deficiency

omim_id:203740

[1]:

reference_text:Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8.

pubmed_id:1640293

[2]:

reference_text:Kohlschutter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G, Kleineke J, Lehnert W, Wendel U: A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr. 1982 Feb;138(1):32-7.

pubmed_id:7075624

[3]:

reference_text:Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P: 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J Inherit Metab Dis. 1993;16(5):821-30.

pubmed_id:8295396

[4]:

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

pubmed_id:

19:

name:Lipoyltransferase 1 Deficiency

omim_id:616299

[1]:

reference_text:Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192.

pubmed_id:24341803

KEGG数据库编号
C00042
DrugBank数据库编号
DB00139
foodb数据库编号
FDB001931
ChemSpider数据库编号
1078
公共化学化合物编号
1738118
PDB数据库编号
生物利益的化学实体数据库编号
15741
knapsack数据库编号
C00001205
维基百科编号
Succinic_acid
代谢途径的数据库编号
SUC
苯酚资源管理器化合物数据库编号
比格数据库编号
梅林编号
虚拟机身份证编号
SUCC
fbonto数据库编号
综合参考
Berglund, Kris Arvid; Andersson, Christian; Rova, Ulrika. Process for the production of succinic acid. PCT Int. Appl. (2007), 30pp.
一般参考
1:

protein_accession:HMDBP00121

name:Succinate dehydrogenase cytochrome b560 subunit, mitochondrial

uniprot_id:Q99643

gene_name:SDHC

protein_type:Unknown

2:

protein_accession:HMDBP00150

name:Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial

uniprot_id:P31040

gene_name:SDHA

protein_type:Unknown

3:

protein_accession:HMDBP00179

name:Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

uniprot_id:O14521

gene_name:SDHD

protein_type:Unknown

4:

protein_accession:HMDBP00193

name:Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

uniprot_id:P21912

gene_name:SDHB

protein_type:Unknown

5:

protein_accession:HMDBP00249

name:Succinate-semialdehyde dehydrogenase, mitochondrial

uniprot_id:P51649

gene_name:ALDH5A1

protein_type:Unknown

6:

protein_accession:HMDBP00270

name:Phytanoyl-CoA dioxygenase, peroxisomal

uniprot_id:O14832

gene_name:PHYH

protein_type:Unknown

7:

protein_accession:HMDBP00302

name:Prolyl 4-hydroxylase subunit alpha-2

uniprot_id:O15460

gene_name:P4HA2

protein_type:Enzyme

8:

protein_accession:HMDBP00304

name:Prolyl 4-hydroxylase subunit alpha-1

uniprot_id:P13674

gene_name:P4HA1

protein_type:Enzyme

9:

protein_accession:HMDBP00382

name:Gamma-butyrobetaine dioxygenase

uniprot_id:O75936

gene_name:BBOX1

protein_type:Unknown

10:

protein_accession:HMDBP00460

name:Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

uniprot_id:Q02809

gene_name:PLOD1

protein_type:Unknown

11:

protein_accession:HMDBP00461

name:Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

uniprot_id:O00469

gene_name:PLOD2

protein_type:Unknown

12:

protein_accession:HMDBP00462

name:Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

uniprot_id:O60568

gene_name:PLOD3

protein_type:Unknown

13:

protein_accession:HMDBP00712

name:Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial

uniprot_id:P55809

gene_name:OXCT1

protein_type:Enzyme

14:

protein_accession:HMDBP00714

name:Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial

uniprot_id:Q9BYC2

gene_name:OXCT2

protein_type:Enzyme

15:

protein_accession:HMDBP00889

name:Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial

uniprot_id:P53597

gene_name:SUCLG1

protein_type:Unknown

16:

protein_accession:HMDBP00891

name:Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial

uniprot_id:Q96I99

gene_name:SUCLG2

protein_type:Unknown

17:

protein_accession:HMDBP00971

name:Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial

uniprot_id:Q9P2R7

gene_name:SUCLA2

protein_type:Unknown

18:

protein_accession:HMDBP01022

name:Aspartyl/asparaginyl beta-hydroxylase

uniprot_id:Q12797

gene_name:ASPH

protein_type:Unknown

19:

protein_accession:HMDBP01023

name:Hypoxia-inducible factor 1-alpha inhibitor

uniprot_id:Q9NWT6

gene_name:HIF1AN

protein_type:Unknown

20:

protein_accession:HMDBP01598

name:Mitochondrial dicarboxylate carrier

uniprot_id:Q9UBX3

gene_name:SLC25A10

protein_type:Enzyme

21:

protein_accession:HMDBP02436

name:Solute carrier family 13 member 3

uniprot_id:Q8WWT9

gene_name:SLC13A3

protein_type:Unknown

22:

protein_accession:HMDBP02862

name:17-beta-hydroxysteroid dehydrogenase type 6

uniprot_id:O14756

gene_name:HSD17B6

protein_type:Unknown

23:

protein_accession:HMDBP03022

name:Solute carrier family 13 member 1

uniprot_id:Q9BZW2

gene_name:SLC13A1

protein_type:Unknown

24:

protein_accession:HMDBP03249

name:Solute carrier family 13 member 2

uniprot_id:Q13183

gene_name:SLC13A2

protein_type:Unknown

25:

protein_accession:HMDBP03654

name:Trimethyllysine dioxygenase, mitochondrial

uniprot_id:Q9NVH6

gene_name:TMLHE

protein_type:Unknown

26:

protein_accession:HMDBP08668

name:Alpha-ketoglutarate-dependent dioxygenase alkB homolog 2

uniprot_id:Q6NS38

gene_name:ALKBH2

protein_type:Unknown

27:

protein_accession:HMDBP08681

name:Prolyl 3-hydroxylase 1

uniprot_id:Q32P28

gene_name:LEPRE1

protein_type:Unknown

28:

protein_accession:HMDBP08682

name:Prolyl 3-hydroxylase 2

uniprot_id:Q8IVL5

gene_name:LEPREL1

protein_type:Unknown

29:

protein_accession:HMDBP08683

name:Prolyl 3-hydroxylase 3

uniprot_id:Q8IVL6

gene_name:LEPREL2

protein_type:Unknown

30:

protein_accession:HMDBP09111

name:Prolyl 4-hydroxylase subunit alpha-3

uniprot_id:Q7Z4N8

gene_name:P4HA3

protein_type:Enzyme

31:

protein_accession:HMDBP09184

name:Lysine-specific demethylase 2A

uniprot_id:Q9Y2K7

gene_name:KDM2A

protein_type:Enzyme

32:

protein_accession:HMDBP09185

name:Lysine-specific demethylase 2B

uniprot_id:Q8NHM5

gene_name:KDM2B

protein_type:Enzyme

33:

protein_accession:HMDBP09210

name:Egl nine homolog 1

uniprot_id:Q9GZT9

gene_name:EGLN1

protein_type:Enzyme

34:

protein_accession:HMDBP09211

name:Egl nine homolog 2

uniprot_id:Q96KS0

gene_name:EGLN2

protein_type:Enzyme

35:

protein_accession:HMDBP09212

name:Egl nine homolog 3

uniprot_id:Q9H6Z9

gene_name:EGLN3

protein_type:Enzyme

36:

protein_accession:HMDBP09213

name:Transmembrane prolyl 4-hydroxylase

uniprot_id:Q9NXG6

gene_name:P4HTM

protein_type:Enzyme

37:

protein_accession:HMDBP11611

name:Alkylated DNA repair protein alkB homolog 1

uniprot_id:Q13686

gene_name:ALKBH1

protein_type:Unknown

38:

protein_accession:HMDBP11803

name:Lysine-specific demethylase 8

uniprot_id:Q8N371

gene_name:KDM8

protein_type:Unknown

39:

protein_accession:HMDBP11829

name:Bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA

uniprot_id:Q8IUF8

gene_name:MINA

protein_type:Unknown

40:

protein_accession:HMDBP11864

name:Bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66

uniprot_id:Q9H6W3

gene_name:NO66

protein_type:Unknown

41:

protein_accession:HMDBP11880

name:Histone lysine demethylase PHF8

uniprot_id:Q9UPP1

gene_name:PHF8

protein_type:Unknown

42:

protein_accession:HMDBP11972

name:Methylcytosine dioxygenase TET1

uniprot_id:Q8NFU7

gene_name:TET1

protein_type:Unknown

43:

protein_accession:HMDBP11973

name:Methylcytosine dioxygenase TET2

uniprot_id:Q6N021

gene_name:TET2

protein_type:Unknown

44:

protein_accession:HMDBP11974

name:Methylcytosine dioxygenase TET3

uniprot_id:O43151

gene_name:TET3

protein_type:Unknown

蛋白质结合
1:

reference_text:Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762.

pubmed_id:19212411

2:

reference_text:Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6.

pubmed_id:8087979

3:

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

4:

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

5:

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

6:

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

7:

reference_text:Magera MJ, Helgeson JK, Matern D, Rinaldo P: Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Clin Chem. 2000 Nov;46(11):1804-10.

pubmed_id:11067816

8:

reference_text:Zhang TM, Sener A, Malaisse WJ: Hydrolysis of succinic acid dimethyl ester in rat pancreatic islets. Biochem Mol Med. 1995 Aug;55(2):131-7.

pubmed_id:7582870

9:

reference_text:Groenen PM, Engelke UF, Wevers RA, Hendriks JC, Eskes TK, Merkus HM, Steegers-Theunissen RP: High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controls. Eur J Obstet Gynecol Reprod Biol. 2004 Jan 15;112(1):16-23.

pubmed_id:14687733

10:

reference_text:Meijer-Severs GJ, van Santen E: Short-chain fatty acids and succinate in feces of healthy human volunteers and their correlation with anaerobe cultural counts. Scand J Gastroenterol. 1987 Aug;22(6):672-6.

pubmed_id:3659829

11:

reference_text:Ren LC, Huang XY, Long JH: [Effects of succinic acid on the function of in vitro cultured human fibroblasts]. Zhonghua Shao Shang Za Zhi. 2004 Feb;20(1):34-6.

pubmed_id:15059451

12:

reference_text:Wevers RA, Engelke U, Heerschap A: High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies. Clin Chem. 1994 Jul;40(7 Pt 1):1245-50.

pubmed_id:8013094

13:

reference_text:Borenstein DG, Gibbs CA, Jacobs RP: Gas-liquid chromatographic analysis of synovial fluid: volatile short-chain fatty acids in septic arthritis. Ann Rheum Dis. 1983 Aug;42(4):362-7.

pubmed_id:6882030

14:

reference_text:Frenkel G, Peterson RN, Freund M: Oxidative and glycolytic metabolism of semen components by washed guinea pig spermatozoa. Fertil Steril. 1975 Feb;26(2):144-7.

pubmed_id:1126459

15:

reference_text:Briere JJ, Favier J, El Ghouzzi V, Djouadi F, Benit P, Gimenez AP, Rustin P: Succinate dehydrogenase deficiency in human. Cell Mol Life Sci. 2005 Oct;62(19-20):2317-24.

pubmed_id:16143825

16:

reference_text:Rustin P, Rotig A: Inborn errors of complex II--unusual human mitochondrial diseases. Biochim Biophys Acta. 2002 Jan 17;1553(1-2):117-22.

pubmed_id:11803021

17:

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

18:

reference_text:Sauer M, Porro D, Mattanovich D, Branduardi P: Microbial production of organic acids: expanding the markets. Trends Biotechnol. 2008 Feb;26(2):100-8. doi: 10.1016/j.tibtech.2007.11.006. Epub 2008 Jan 11.

pubmed_id:18191255

19:

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

20:

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

21:

reference_text:Tretter L, Patocs A, Chinopoulos C: Succinate, an intermediate in metabolism, signal transduction, ROS, hypoxia, and tumorigenesis. Biochim Biophys Acta. 2016 Aug;1857(8):1086-1101. doi: 10.1016/j.bbabio.2016.03.012. Epub 2016 Mar 10.

pubmed_id:26971832

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