版本
5.0
创建日期
2005-11-16 15:48:42 UTC
更新日期
2021-09-07 19:37:14 UTC
登录号
HMDB0000292
地位
quantified
二级访问
HMDB00292

名称
Xanthine
描述
Xanthine, also known as 2,6-dioxopurine, belongs to the class of organic compounds known as xanthines. These are purine derivatives with a ketone group conjugated at carbons 2 and 6 of the purine moiety. Xanthine is also classified as an oxopurine. An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-9 is protonated. Xanthine exists in all living species, ranging from bacteria to plants to humans. In plants, several stimulants can be derived from xanthine, including caffeine, theophylline, and theobromine. Derivatives of xanthine (known collectively as xanthines) are a group of alkaloids commonly used for their effects as mild stimulants and as bronchodilators, notably in the treatment of asthma or influenza symptoms. Within humans, xanthine participates in a number of enzymatic reactions. In particular, xanthine can be biosynthesized from guanine; which is mediated by the enzyme guanine deaminase. In addition, xanthine and ribose 1-phosphate can be biosynthesized from xanthosine through the action of the enzyme purine nucleoside phosphorylase. In humans and other primates, xanthine can be converted to uric acid by the action of the xanthine oxidase enzyme. People with rare genetic disorders, specifically xanthinuria and Lesch–Nyhan syndrome, lack sufficient xanthine oxidase and cannot convert xanthine to uric acid. Individuals with xanthinuria have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones. Individuals with Lesch-Nyhan syndrome have a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The HGPRT deficiency causes a build-up of uric acid in all body fluids. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate intellectual disability.
同义词
1:2,6-Dihydroxypurine

2:2,6-Dioxo-1,2,3,6-tetrahydropurine

3:9H-Purine-2,6-(1H,3H)-dione

4:Purine-2(3H),6(1H)-dione

5:Xan

6:1H-Purine-2,6-diol

7:2,6(1,3)-Purinedion

8:2,6-Dioxopurine

9:3,7-Dihydro-1H-purine-2,6-dione

10:3,7-Dihydropurine-2,6-dione

11:9H-Purine-2,6(1H,3H)-dione

12:9H-Purine-2,6-diol

13:Dioxopurine

14:Isoxanthine

15:Pseudoxanthine

16:Purine-2,6(1H,3H)-dione

17:Purine-2,6-diol

18:Xanthic oxide

19:Xanthin

化学式
C5H4N4O2
平均分子量
152.1109
等位分子量
152.033425392
化学名称
2,3,6,7-tetrahydro-1H-purine-2,6-dione
传统名称
xanthine
CAS 登记号
69-89-6
代谢物结构字符串
O=C1NC2=C(NC=N2)C(=O)N1
inchi标识符
InChI=1S/C5H4N4O2/c10-4-2-3(7-1-6-2)8-5(11)9-4/h1H,(H3,6,7,8,9,10,11)
印记键
LRFVTYWOQMYALW-UHFFFAOYSA-N
分类学
description: belongs to the class of organic compounds known as xanthines. These are purine derivatives with a ketone group conjugated at carbons 2 and 6 of the purine moiety.

description:Xanthines

kingdom:Organic compounds

super_class:Organoheterocyclic compounds

class:Imidazopyrimidines

sub_class:Purines and purine derivatives

molecular_framework:Aromatic heteropolycyclic compounds

1:6-oxopurines

2:Alkaloids and derivatives

3:Azacyclic compounds

4:Heteroaromatic compounds

5:Hydrocarbon derivatives

6:Imidazoles

7:Lactams

8:Organic oxides

9:Organonitrogen compounds

10:Organooxygen compounds

11:Organopnictogen compounds

12:Pyrimidones

13:Ureas

14:Vinylogous amides

15:6-oxopurine

16:Alkaloid or derivatives

17:Aromatic heteropolycyclic compound

18:Azacycle

19:Azole

20:Heteroaromatic compound

21:Hydrocarbon derivative

22:Imidazole

23:Lactam

24:Organic nitrogen compound

25:Organic oxide

26:Organic oxygen compound

27:Organonitrogen compound

28:Organooxygen compound

29:Organopnictogen compound

30:Purinone

31:Pyrimidine

32:Pyrimidone

33:Urea

34:Vinylogous amide

35:Xanthine

36:Purine alkaloids

37:a small molecule

38:xanthine

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: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:Degenerative disc disease

definition:A bone deterioration disease that has material basis in gradual dehydration and tears located in intervertebral disc. (do).

parent_id:7695

***level:4

type:child

synonym:Ddd

term:Lesch-nyhan syndrome

definition:

parent_id:7695

***level:4

type:child

synonym:Lns

synonym:Kelley-seegmiller syndrome

synonym:Nyhan's syndrome

synonym:Hypoxanthin guanine phosphoribosyl transferase

term:Urolithiasis

definition:

parent_id:7695

***level:4

type:child

synonym:Urinary bladder calculi

synonym:Bladder calculi

synonym:Bladder stones

synonym:Cystoliths

term:Xanthinuria

definition:A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (do).

parent_id:7695

***level:4

type:child

synonym:Xanthinuria

synonym:Xanthine dehydrogenase deficiency

synonym:Xdh deficiency

synonym:Xanthine oxidase deficiency

term:Uremia

definition:A disorder characterized by accummulation of solutes in the blood of people with chronic kidney disease. (do).

parent_id:7695

***level:4

type:child

synonym:Uraemia

term:Renal and urinary disorders

definition:Any disorder that affects the kidneys and the urologic system.

parent_id:7695

***level:4

type:parent

term:Nervous system disorders

definition:Any disorder (non-neoplastic or neoplastic) that affects the brain, spinal cord, or peripheral nerves.

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:Dermal

definition:Chemical exposure by contact with the dermis or a cuticle or cornified region of the epidermis.

parent_id:7745

***level:4

type:child

synonym:Topical

synonym:Skin contact

synonym:Cutaneous (related but nor necessarily exact synonym)

synonym:Transdermal

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: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: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:Biological location

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

parent_id:7724

*level:2

type:parent

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:Cell

definition:

parent_id:7732

***level:4

type:parent

term:Tissue and substructures

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

parent_id:7725

**level:3

type:parent

term:Epidermis

definition:The epithelial portion of the skin (cutis). it consists of the following layers: stratum corneum (horny layer), stratum granulosum (granular layer), stratum spinosum (prickle cell layer), and stratum basale (basal cell layer). (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: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: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:Intestine

definition:The portion of the gastrointestinal tract that includes the small and large intestines.

parent_id:7727

***level:4

type:child

term:Testicle

definition:Either of the paired male reproductive glands that produce the male germ cells and the male hormones. (nci).

parent_id:7727

***level:4

type:child

synonym:Testes

synonym:Testis

term:Bladder

definition:The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra. (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: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:Sweat

definition:Secretion produced by a sweat gland.

parent_id:7731

***level:4

type:child

term:Cerebrospinal fluid

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

parent_id:7731

***level:4

type:child

synonym:Csf

term:Subcellular

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

parent_id:7725

**level:3

type:parent

term:Cytoplasm

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

parent_id:7730

***level:4

type:child

synonym:Cytoplasma

term: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: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:Industrial application

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

parent_id:7671

*level:2

type:parent

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

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:Drug metabolite

definition:

parent_id:7672

**level:3

type:child

term:Waste product

definition:A chemical that is generated in a metabolic process and is destined to be excreted from the body. It commonly consists of water, nitrogenous compounds or carbon dioxide and can be a metabolic byproduct or a degradation product (such as urobilin metabolised from bilirubin which is a degradation product of hemoglobin).

parent_id:7672

**level:3

type:child

term:Metabolite

definition:A chemical substance produced during metabolism process, as an intermediate or end-product.

parent_id:7672

**level:3

type:child

状态
Solid
实验性质
1:

kind:water_solubility

value:0.069 mg/mL at 16 °C; 9.5 mg/mL (sodium salt)

source:MERCK INDEX (1996); Human Metabolome Project (salt)

2:

kind:logp

value:-0.73

source:HANSCH,C ET AL. (1995)

3:

kind:melting_point

value:> 300 °C

source:

预测性质
1:

kind:logp

value:-0.65

source:ALOGPS

2:

kind:logs

value:-1.49

source:ALOGPS

3:

kind:solubility

value:4.91 g/L

source:ALOGPS

4:

kind:logp

value:-0.21

source:ChemAxon

5:

kind:pka_strongest_acidic

value:7.95

source:ChemAxon

6:

kind:pka_strongest_basic

value:-0.7

source:ChemAxon

7:

kind:iupac

value:2,3,6,7-tetrahydro-1H-purine-2,6-dione

source:ChemAxon

8:

kind:average_mass

value:152.1109

source:ChemAxon

9:

kind:mono_mass

value:152.033425392

source:ChemAxon

10:

kind:smiles

value:O=C1NC2=C(NC=N2)C(=O)N1

source:ChemAxon

11:

kind:formula

value:C5H4N4O2

source:ChemAxon

12:

kind:inchi

value:InChI=1S/C5H4N4O2/c10-4-2-3(7-1-6-2)8-5(11)9-4/h1H,(H3,6,7,8,9,10,11)

source:ChemAxon

13:

kind:inchikey

value:LRFVTYWOQMYALW-UHFFFAOYSA-N

source:ChemAxon

14:

kind:polar_surface_area

value:86.88

source:ChemAxon

15:

kind:refractivity

value:36.92

source:ChemAxon

16:

kind:polarizability

value:12.7

source:ChemAxon

17:

kind:rotatable_bond_count

value:0

source:ChemAxon

18:

kind:acceptor_count

value:3

source:ChemAxon

19:

kind:donor_count

value:3

source:ChemAxon

20:

kind:physiological_charge

value:0

source:ChemAxon

21:

kind:formal_charge

value:0

source:ChemAxon

22:

kind:number_of_rings

value:2

source:ChemAxon

23:

kind:bioavailability

value:Yes

source:ChemAxon

24:

kind:rule_of_five

value:Yes

source:ChemAxon

25:

kind:ghose_filter

value:No

source:ChemAxon

26:

kind:veber_rule

value:No

source:ChemAxon

27:

kind:mddr_like_rule

value:No

source:ChemAxon

1:

type:Specdb::EiMs

spectrum_id:412

2:

type:Specdb::CMs

spectrum_id:522

3:

type:Specdb::CMs

spectrum_id:2708

4:

type:Specdb::CMs

spectrum_id:30712

5:

type:Specdb::CMs

spectrum_id:32321

6:

type:Specdb::CMs

spectrum_id:146604

7:

type:Specdb::NmrTwoD

spectrum_id:1014

8:

type:Specdb::NmrTwoD

spectrum_id:1259

9:

type:Specdb::MsMs

spectrum_id:495

10:

type:Specdb::MsMs

spectrum_id:496

11:

type:Specdb::MsMs

spectrum_id:497

12:

type:Specdb::MsMs

spectrum_id:3930

13:

type:Specdb::MsMs

spectrum_id:20087

14:

type:Specdb::MsMs

spectrum_id:20088

15:

type:Specdb::MsMs

spectrum_id:20089

16:

type:Specdb::MsMs

spectrum_id:21638

17:

type:Specdb::MsMs

spectrum_id:21639

18:

type:Specdb::MsMs

spectrum_id:21640

19:

type:Specdb::MsMs

spectrum_id:439121

20:

type:Specdb::MsMs

spectrum_id:440035

21:

type:Specdb::MsMs

spectrum_id:447350

22:

type:Specdb::MsMs

spectrum_id:2236517

23:

type:Specdb::MsMs

spectrum_id:2236881

24:

type:Specdb::MsMs

spectrum_id:2238648

25:

type:Specdb::MsMs

spectrum_id:2240648

26:

type:Specdb::MsMs

spectrum_id:2241065

27:

type:Specdb::MsMs

spectrum_id:2242679

28:

type:Specdb::MsMs

spectrum_id:2242921

29:

type:Specdb::MsMs

spectrum_id:2242940

30:

type:Specdb::MsMs

spectrum_id:2243142

31:

type:Specdb::MsMs

spectrum_id:2245016

32:

type:Specdb::MsMs

spectrum_id:2245116

33:

type:Specdb::MsMs

spectrum_id:2247120

34:

type:Specdb::NmrOneD

spectrum_id:1316

35:

type:Specdb::NmrOneD

spectrum_id:3280

36:

type:Specdb::NmrOneD

spectrum_id:4815

37:

type:Specdb::NmrOneD

spectrum_id:4816

38:

type:Specdb::NmrOneD

spectrum_id:143350

39:

type:Specdb::NmrOneD

spectrum_id:143351

40:

type:Specdb::NmrOneD

spectrum_id:143352

41:

type:Specdb::NmrOneD

spectrum_id:143353

42:

type:Specdb::NmrOneD

spectrum_id:143354

43:

type:Specdb::NmrOneD

spectrum_id:143355

44:

type:Specdb::NmrOneD

spectrum_id:143356

45:

type:Specdb::NmrOneD

spectrum_id:143357

46:

type:Specdb::NmrOneD

spectrum_id:143358

47:

type:Specdb::NmrOneD

spectrum_id:143359

48:

type:Specdb::NmrOneD

spectrum_id:143360

49:

type:Specdb::NmrOneD

spectrum_id:143361

50:

type:Specdb::NmrOneD

spectrum_id:143362

51:

type:Specdb::NmrOneD

spectrum_id:143363

52:

type:Specdb::NmrOneD

spectrum_id:143364

53:

type:Specdb::NmrOneD

spectrum_id:143365

54:

type:Specdb::NmrOneD

spectrum_id:143366

55:

type:Specdb::NmrOneD

spectrum_id:143367

56:

type:Specdb::NmrOneD

spectrum_id:143368

57:

type:Specdb::NmrOneD

spectrum_id:143369

光谱
生物学性质
1:

cellular:(1):Cytoplasm

cellular:(2):Peroxisome

2:

biospecimen:(1):Blood

biospecimen:(2):Cerebrospinal Fluid (CSF)

biospecimen:(3):Feces

biospecimen:(4):Saliva

biospecimen:(5):Sweat

biospecimen:(6):Urine

3:

tissue:(1):Bladder

tissue:(2):Epidermis

tissue:(3):Fibroblasts

tissue:(4):Intestine

tissue:(5):Kidney

tissue:(6):Liver

tissue:(7):Placenta

tissue:(8):Prostate

tissue:(9):Skeletal Muscle

tissue:(10):Testis

4:

[1]:

name:Adenine phosphoribosyltransferase deficiency (APRT)

smpdb_id:SMP00535

kegg_map_id:

[2]:

name:Adenosine Deaminase Deficiency

smpdb_id:SMP00144

kegg_map_id:

[3]:

name:Adenylosuccinate Lyase Deficiency

smpdb_id:SMP00167

kegg_map_id:

[4]:

name:AICA-Ribosiduria

smpdb_id:SMP00168

kegg_map_id:

[5]:

name:Azathioprine Action Pathway

smpdb_id:SMP00427

kegg_map_id:

[6]:

name:Gout or Kelley-Seegmiller Syndrome

smpdb_id:SMP00365

kegg_map_id:

[7]:

name:Lesch-Nyhan Syndrome (LNS)

smpdb_id:SMP00364

kegg_map_id:

[8]:

name:Mercaptopurine Action Pathway

smpdb_id:SMP00428

kegg_map_id:

[9]:

name:Mitochondrial DNA depletion syndrome

smpdb_id:SMP00536

kegg_map_id:

[10]:

name:Molybdenum Cofactor Deficiency

smpdb_id:SMP00203

kegg_map_id:

[11]:

name:Myoadenylate deaminase deficiency

smpdb_id:SMP00537

kegg_map_id:

[12]:

name:Purine metabolism

smpdb_id:

kegg_map_id:map00230

[13]:

name:Purine Nucleoside Phosphorylase Deficiency

smpdb_id:SMP00210

kegg_map_id:

[14]:

name:Thioguanine Action Pathway

smpdb_id:SMP00430

kegg_map_id:

[15]:

name:Xanthine Dehydrogenase Deficiency (Xanthinuria)

smpdb_id:SMP00220

kegg_map_id:

[16]:

name:Xanthinuria type I

smpdb_id:SMP00512

kegg_map_id:

[17]:

name:Xanthinuria type II

smpdb_id:SMP00513

kegg_map_id:

正常浓度
1:

biospecimen:Blood

concentration_value:<1.00

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

2:

biospecimen:Blood

concentration_value:0.7 +/- 0.2

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

3:

biospecimen:Blood

concentration_value:0.9 +/- 0.1

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

4:

biospecimen:Blood

concentration_value:0.700 +/- 0.200

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

5:

biospecimen:Blood

concentration_value:0.3-3

concentration_units:uM

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

6:

biospecimen:Blood

concentration_value:1.27 +/- 0.78

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

7:

biospecimen:Blood

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

8:

biospecimen:Blood

concentration_value:3.289 +/- 9.211

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

9:

biospecimen:Blood

concentration_value:4.5(2.7-8.0)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

10:

biospecimen:Blood

concentration_value:<2

concentration_units:uM

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

11:

biospecimen:Blood

concentration_value:4.9 +/- 1.5

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

12:

biospecimen:Blood

concentration_value:0.91 +/- 0.45

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

13:

biospecimen:Blood

concentration_value:200

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

14:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:5.20 (4.33-6.07)

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

15:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2.5 +/- 0.7

concentration_units:uM

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

16:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:13 +/- 7

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

17:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

18:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

19:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Not Specified

subject_sex:Both

subject_condition:Normal

20:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

21:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

22:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Female

subject_condition:Normal

23:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

24:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Children (6 - 18 years old)

subject_sex:Not Specified

subject_condition:Normal

25:

biospecimen:Feces

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

26:

biospecimen:Saliva

concentration_value:1.32 +/- 1.72

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

27:

biospecimen:Saliva

concentration_value:0.88 +/- 0.31

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

28:

biospecimen:Saliva

concentration_value:1.81+/- 0.58

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

29:

biospecimen:Saliva

concentration_value:1.58 +/- 0.39

concentration_units:uM

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

30:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

31:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

32:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

33:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

34:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

35:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

36:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

37:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

38:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

39:

biospecimen:Saliva

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

40:

biospecimen:Urine

concentration_value:<40

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

41:

biospecimen:Urine

concentration_value:0 -30

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

42:

biospecimen:Urine

concentration_value:15.6 +/- 1.1

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Both

subject_condition:Normal

43:

biospecimen:Urine

concentration_value:3.279 +/- 1.0175

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

44:

biospecimen:Urine

concentration_value:3.4 +/- 1.9

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

45:

biospecimen:Urine

concentration_value:4.522 +/- 1.131

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:normal

46:

biospecimen:Urine

concentration_value:275.753 +/- 65.914

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Not Specified

subject_condition:Normal

47:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

48:

biospecimen:Urine

concentration_value:<30

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

49:

biospecimen:Urine

concentration_value:<80

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

50:

biospecimen:Urine

concentration_value:2.6 (2.2-3.75)

concentration_units:umol/mmol creatinine

subject_age:Adult (>18 years old)

subject_sex:Both

subject_condition:Normal

51:

biospecimen:Urine

concentration_value:3-62

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 18 years old)

subject_sex:Both

subject_condition:Normal

52:

biospecimen:Urine

concentration_value:2.667 (2.267-3.800)

concentration_units:umol/mmol creatinine

subject_age:Not Specified

subject_sex:Not Specified

subject_condition:Normal

53:

biospecimen:Urine

concentration_value:52.591 +/- 67.878

concentration_units:umol/mmol creatinine

subject_age:Children (1 - 13 years old)

subject_sex:Not Specified

subject_condition:Normal

54:

biospecimen:Urine

concentration_value:4.3

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Both

subject_condition:Normal

55:

biospecimen:Urine

concentration_value:<40

concentration_units:umol/mmol creatinine

subject_age:Infant (0-1 year old)

subject_sex:Not Specified

subject_condition:Normal

56:

biospecimen:Urine

concentration_value:0-43

concentration_units:umol/mmol creatinine

subject_age:Children (1-13 years old)

subject_sex:Not Specified

subject_condition:Normal

57:

biospecimen:Urine

concentration_value:

concentration_units:

subject_age:Adult (>18 years old)

subject_sex:Male

subject_condition:Normal

异常浓度
1:

biospecimen:Blood

concentration_value:2.2 +/- 0.3

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Lesch-Nyhan syndrome

2:

biospecimen:Blood

concentration_value:6.8

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Xanthinuria type 1

3:

biospecimen:Blood

concentration_value:12.4

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

4:

biospecimen:Blood

concentration_value:118

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

5:

biospecimen:Blood

concentration_value:2.7 +/- 1.6

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

6:

biospecimen:Blood

concentration_value:9-14

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Xanthinuria type 1

7:

biospecimen:Blood

concentration_value:1.1

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

8:

biospecimen:Blood

concentration_value:40

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Xanthinuria type II

9:

biospecimen:Blood

concentration_value:51.2

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Heart Transplant

10:

biospecimen:Blood

concentration_value:6.37 +/- 1.95

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Canavan disease

11:

biospecimen:Blood

concentration_value:9.868 +/- 5.263

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Uremia

12:

biospecimen:Blood

concentration_value:18

concentration_units:uM

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Molybdenium co-factor deficiency

13:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:5.17 (3.64-6.70)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Hydrocephalus

14:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:9.90 (7.46-12.3)

concentration_units:uM

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Hydrocephalus

15:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:19.6

concentration_units:uM

patient_age:Children (1 - 13 years old)

patient_sex:Not Specified

patient_information:Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

16:

biospecimen:Cerebrospinal Fluid (CSF)

concentration_value:2.30 (2.10-2.50)

concentration_units:uM

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Degenerative disc disease

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:Colorectal cancer

19:

biospecimen:Feces

concentration_value:

concentration_units:

patient_age:Adult (>18 years old)

patient_sex:Both

patient_information:Colorectal cancer

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:Sweat

concentration_value:

concentration_units:

patient_age:Infant (0-1 year old)

patient_sex:Not Specified

patient_information:screen-positive CF

24:

biospecimen:Urine

concentration_value:146.978

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Xanthinuria type 1

25:

biospecimen:Urine

concentration_value:192.202

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

26:

biospecimen:Urine

concentration_value:193

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Xanthinuria type 1

27:

biospecimen:Urine

concentration_value:228

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Not Specified

patient_information:Molybdenum cofactor deficiency

28:

biospecimen:Urine

concentration_value:991

concentration_units:umol/mmol creatinine

patient_age:Newborn (0-30 days old)

patient_sex:Not Specified

patient_information:Molybdenum cofactor deficiency

29:

biospecimen:Urine

concentration_value:1.6-3

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Sulfite oxidase deficiency

30:

biospecimen:Urine

concentration_value:12.9-34.9

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Sulfite oxidase deficiency

31:

biospecimen:Urine

concentration_value:164.5-349.3

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Both

patient_information:Xanthinuria type 1

32:

biospecimen:Urine

concentration_value:31.657 +/- 19.220

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Lesch-Nyhan syndrome

33:

biospecimen:Urine

concentration_value:529-1713

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Both

patient_information:Molybdenum cofactor deficiency

34:

biospecimen:Urine

concentration_value:524.146

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Female

patient_information:Phosphoribosylpyrophosphate Synthetase Superactivity

35:

biospecimen:Urine

concentration_value:4.9

concentration_units:umol/mmol creatinine

patient_age:Adolescent (13-18 years old)

patient_sex:Female

patient_information:Adenosine kinase deficiency

36:

biospecimen:Urine

concentration_value:6.8

concentration_units:umol/mmol creatinine

patient_age:Adult (>18 years old)

patient_sex:Male

patient_information:Adenosine kinase deficiency

37:

biospecimen:Urine

concentration_value:37.779 +/- 61.348

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:48

concentration_units:umol/mmol creatinine

patient_age:Infant (0-1 year old)

patient_sex:Female

patient_information:Molybdenium co-factor deficiency

39:

biospecimen:Urine

concentration_value:259

concentration_units:umol/mmol creatinine

patient_age:Children (1-13 years old)

patient_sex:Male

patient_information:Molybdenium co-factor deficiency

疾病参考
1:

name:Lesch-Nyhan syndrome

omim_id:300322

[1]:

reference_text:Ohdoi C, Nyhan WL, Kuhara T: Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):123-30.

pubmed_id:12829005

[2]:

reference_text:Harkness RA, McCreanor GM, Watts RW: Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. J Inherit Metab Dis. 1988;11(3):239-52.

pubmed_id:3148065

[3]:

reference_text:Nyhan WL: Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar;14(1):1-10.

pubmed_id:15804753

[4]:

reference_text:Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buno AS, O'Neill P: The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore). 2001 Mar;80(2):102-12.

pubmed_id:11307586

[5]:

reference_text:Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B: Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. Pediatr Nephrol. 2005 Sep;20(9):1346-8. Epub 2005 Jun 18.

pubmed_id:15965771

2:

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

3:

name:Xanthinuria type 1

omim_id:278300

[1]:

reference_text:Mateos FA, Puig JG, Jimenez ML, Fox IH: Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. J Clin Invest. 1987 Mar;79(3):847-52.

pubmed_id:3818951

[2]:

reference_text:Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B: Modern diagnostic approach to hereditary xanthinuria. Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6.

pubmed_id:25370766

[3]:

reference_text:Eggermann T, Spengler S, Denecke B, Zerres K, Mache CJ: Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. Clin Nephrol. 2013 Jan;79(1):78-80.

pubmed_id:23249873

4:

name:Xanthinuria type II

omim_id:

[1]:

reference_text:Zannolli R, Micheli V, Mazzei MA, Sacco P, Piomboni P, Bruni E, Miracco C, de Santi MM, Terrosi Vagnoli P, Volterrani L, Pellegrini L, Livi W, Lucani B, Gonnelli S, Burlina AB, Jacomelli G, Macucci F, Pucci L, Fimiani M, Swift JA, Zappella M, Morgese G: Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. J Med Genet. 2003 Nov;40(11):e121.

pubmed_id:14627688

5:

name:Molybdenium co-factor deficiency

omim_id:252150

[1]:

reference_text:Aukett A, Bennett MJ, Hosking GP: Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neurol. 1988 Aug;30(4):531-5.

pubmed_id:3169394

[2]:

reference_text:Nagappa M, Bindu PS, Taly AB, Sinha S, Bharath RD: Child Neurology: Molybdenum cofactor deficiency. Neurology. 2015 Dec 8;85(23):e175-8. doi: 10.1212/WNL.0000000000002194.

pubmed_id:26644055

6:

name:Uremia

omim_id:

[1]:

reference_text:Canepa A, Filho JC, Gutierrez A, Carrea A, Forsberg AM, Nilsson E, Verrina E, Perfumo F, Bergstrom J: Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children. Nephrol Dial Transplant. 2002 Mar;17(3):413-21.

pubmed_id:11865086

[2]:

reference_text:Fujita T, Amuro Y, Hada T, Higashino K: Plasma levels of pipecolic acid, both L- and D-enantiomers, in patients with chronic liver diseases, especially hepatic encephalopathy. Clin Chim Acta. 1999 Sep;287(1-2):99-109.

pubmed_id:10509899

[3]:

reference_text:Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6.

pubmed_id:9607216

[4]:

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

[5]:

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omim_id:614300

[1]:

reference_text:Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Dobeln U, Gustafsson CM, Lundeberg J, Wedell A: Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28.

pubmed_id:21963049

18:

name:Phosphoribosylpyrophosphate Synthetase Superactivity

omim_id:300661

[1]:

reference_text:Sperling O, Eilam G, Sara-Persky-Brosh, De Vries A: Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. Biochem Med. 1972 Aug;6(4):310-6.

pubmed_id:4340256

[2]:

reference_text:Garcia-Pavia P, Torres RJ, Rivero M, Ahmed M, Garcia-Puig J, Becker MA: Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum. 2003 Jul;48(7):2036-41. doi: 10.1002/art.11058.

pubmed_id:12847698

KEGG数据库编号
C00385
DrugBank数据库编号
DB02134
foodb数据库编号
FDB001977
ChemSpider数据库编号
1151
公共化学化合物编号
1188
PDB数据库编号
生物利益的化学实体数据库编号
17712
knapsack数据库编号
C00019660
维基百科编号
Xanthine
代谢途径的数据库编号
XANTHINE
苯酚资源管理器化合物数据库编号
比格数据库编号
34825
梅林编号
82
虚拟机身份证编号
XAN
fbonto数据库编号
综合参考
Procedure for the production of xanthine and xanthine-like materials. Fr. (1967), 4 pp.
一般参考
1:

protein_accession:HMDBP00181

name:Xanthine dehydrogenase/oxidase

uniprot_id:P47989

gene_name:XDH

protein_type:Unknown

2:

protein_accession:HMDBP00475

name:Hypoxanthine-guanine phosphoribosyltransferase

uniprot_id:P00492

gene_name:HPRT1

protein_type:Unknown

3:

protein_accession:HMDBP00690

name:Guanine deaminase

uniprot_id:Q9Y2T3

gene_name:GDA

protein_type:Unknown

4:

protein_accession:HMDBP03752

name:Purine nucleoside phosphorylase

uniprot_id:P00491

gene_name:PNP

protein_type:Enzyme

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:Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7.

pubmed_id:6656991

3:

reference_text:Liu Z, Li T, Wang E: Simultaneous determination of guanine, uric acid, hypoxanthine and xanthine in human plasma by reversed-phase high-performance liquid chromatography with amperometric detection. Analyst. 1995 Aug;120(8):2181-4.

pubmed_id:7677251

4:

reference_text:Ihara H, Shino Y, Morita Y, Kawaguchi E, Hashizume N, Yoshida M: Is skeletal muscle damaged by the oxidative stress following anaerobic exercise? J Clin Lab Anal. 2001;15(5):239-43.

pubmed_id:11574951

5:

reference_text:Niklasson F: Simultaneous liquid-chromatographic determination of hypoxanthine, xanthine, urate, and creatinine in cerebrospinal fluid, with direct injection. Clin Chem. 1983 Aug;29(8):1543-6.

pubmed_id:6872216

6:

reference_text:Castro-Gago M, Rodriguez IN, Rodriguez-Nunez A, Guitian JP, Rocamonde SL, Rodriguez-Segade S: Therapeutic criteria in hydrocephalic children. Childs Nerv Syst. 1989 Dec;5(6):361-3.

pubmed_id:2611770

7:

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

pubmed_id:16324927

8:

reference_text:Gudbjornsson B, Zak A, Niklasson F, Hallgren R: Hypoxanthine, xanthine, and urate in synovial fluid from patients with inflammatory arthritides. Ann Rheum Dis. 1991 Oct;50(10):669-72.

pubmed_id:1958086

9:

reference_text:Teeuwen HW, Elbers EL, van Rossum JM: Rapid and sensitive gas-chromatographic determination of caffeine in blood plasma, saliva, and xanthine beverages. Mol Biol Rep. 1991 Feb;15(1):1-7.

pubmed_id:1875916

10:

reference_text:Becker MA, Kisicki J, Khosravan R, Wu J, Mulford D, Hunt B, MacDonald P, Joseph-Ridge N: Febuxostat (TMX-67), a novel, non-purine, selective inhibitor of xanthine oxidase, is safe and decreases serum urate in healthy volunteers. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1111-6.

pubmed_id:15571211

11:

reference_text:Kawasaki N, Tanimoto T, Tanaka A, Hayakawa T, Miyasaka N: Determination of non-protein-bound iron in human synovial fluid by high-performance liquid chromatography with electrochemical detection. J Chromatogr B Biomed Appl. 1994 Jun 17;656(2):436-40.

pubmed_id:7987499

12:

reference_text:Cooper N, Khosravan R, Erdmann C, Fiene J, Lee JW: Quantification of uric acid, xanthine and hypoxanthine in human serum by HPLC for pharmacodynamic studies. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 6;837(1-2):1-10. Epub 2006 May 2.

pubmed_id:16631418

13:

reference_text:Kiss A, Barenyi M, Csontai A: Xanthine stone in the urinary bladder of a male child. Urol Int. 1999;63(4):242-4.

pubmed_id:10743702

14:

reference_text:Kjaergaard N, Moller-Petersen JF, Kristiansen FV, Petersen PL, Ekelund S, Skovbo P: Xanthine and hypoxanthine in amniotic fluid during pregnancy. Dan Med Bull. 1990 Dec;37(6):559-60.

pubmed_id:2127397

15:

reference_text:Wiley DM, Szabo I, Maguire MH, Finley BE, Bennett TL: Measurement of hypoxanthine and xanthine in late-gestation human amniotic fluid by reversed-phase high-performance liquid chromatography with photodiode-array detection. J Chromatogr. 1990 Nov 30;533:73-86.

pubmed_id:2081781

16:

reference_text:Ginsburg I: Could synergistic interactions among reactive oxygen species, proteinases, membrane-perforating enzymes, hydrolases, microbial hemolysins and cytokines be the main cause of tissue damage in infectious and inflammatory conditions? Med Hypotheses. 1998 Oct;51(4):337-46.

pubmed_id:9824842

17:

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

pubmed_id:32033212

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