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Showing metabocard for Uric acid (HMDB0000289)

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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2023-05-30 20:56:04 UTC
HMDB IDHMDB0000289
Secondary Accession Numbers
  • HMDB00289
Metabolite Identification
Common NameUric acid
Description
Structure
Thumb
MOL3D MOLSDF3D SDFPDB3D PDBSMILESInChI

MOL for HMDB0000289 (Uric acid)

  Mrv1652309042000002D          

 12 13  0  0  0  0            999 V2000
    4.0668    2.3479    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    3.3523    1.9354    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    3.3523    1.1104    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378    0.6979    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378   -0.1271    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.9233    1.1104    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.9233    1.9354    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378    2.3479    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    1.1387    2.1904    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    0.6538    1.5229    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.1712    1.5229    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.1387    0.8555    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  2  0  0  0  0
  2  3  1  0  0  0  0
  3  4  1  0  0  0  0
  4  5  2  0  0  0  0
  4  6  1  0  0  0  0
  6  7  2  0  0  0  0
  7  8  1  0  0  0  0
  2  8  1  0  0  0  0
  7  9  1  0  0  0  0
  9 10  1  0  0  0  0
 10 11  2  0  0  0  0
 10 12  1  0  0  0  0
  6 12  1  0  0  0  0
M  END
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3D MOL for HMDB0000289 (Uric acid)

HMDB0000289
     RDKit          3D
Uric acid
 16 17  0  0  0  0  0  0  0  0999 V2000
   -3.0705   -1.4091   -0.3526 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.9982   -0.7674   -0.2027 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1100    0.5558    0.0310 N   0  0  0  0  0  0  0  0  0  0  0  0
   -0.9825    1.2560    0.1933 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.0973    2.4897    0.4108 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.2759    0.6766    0.1303 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.5346    1.1267    0.2520 N   0  0  0  0  0  0  0  0  0  0  0  0
    2.4054    0.1204    0.0999 C   0  0  0  0  0  0  0  0  0  0  0  0
    3.6734    0.1557    0.1475 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.6648   -0.9940   -0.1241 N   0  0  0  0  0  0  0  0  0  0  0  0
    0.3588   -0.6813   -0.1105 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7841   -1.3620   -0.2698 N   0  0  0  0  0  0  0  0  0  0  0  0
   -3.0443    1.0316    0.0860 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.8046    2.1129    0.4377 H   0  0  0  0  0  0  0  0  0  0  0  0
    2.0787   -1.9250   -0.2776 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7095   -2.3867   -0.4511 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  2  0
  2  3  1  0
  3  4  1  0
  4  5  2  0
  4  6  1  0
  6  7  1  0
  7  8  1  0
  8  9  2  0
  8 10  1  0
 10 11  1  0
 11 12  1  0
 12  2  1  0
 11  6  2  0
  3 13  1  0
  7 14  1  0
 10 15  1  0
 12 16  1  0
M  END
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3D SDF for HMDB0000289 (Uric acid)

  Mrv1652309042000002D          

 12 13  0  0  0  0            999 V2000
    4.0668    2.3479    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    3.3523    1.9354    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    3.3523    1.1104    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378    0.6979    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378   -0.1271    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.9233    1.1104    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.9233    1.9354    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.6378    2.3479    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    1.1387    2.1904    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
    0.6538    1.5229    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.1712    1.5229    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.1387    0.8555    0.0000 N   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  2  0  0  0  0
  2  3  1  0  0  0  0
  3  4  1  0  0  0  0
  4  5  2  0  0  0  0
  4  6  1  0  0  0  0
  6  7  2  0  0  0  0
  7  8  1  0  0  0  0
  2  8  1  0  0  0  0
  7  9  1  0  0  0  0
  9 10  1  0  0  0  0
 10 11  2  0  0  0  0
 10 12  1  0  0  0  0
  6 12  1  0  0  0  0
M  END
> <DATABASE_ID>
HMDB0000289

> <DATABASE_NAME>
hmdb

> <SMILES>
O=C1NC2=C(N1)C(=O)NC(=O)N2

> <INCHI_IDENTIFIER>
InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12)

> <INCHI_KEY>
LEHOTFFKMJEONL-UHFFFAOYSA-N

> <FORMULA>
C5H4N4O3

> <MOLECULAR_WEIGHT>
168.1103

> <EXACT_MASS>
168.028340014

> <JCHEM_ACCEPTOR_COUNT>
3

> <JCHEM_ATOM_COUNT>
16

> <JCHEM_AVERAGE_POLARIZABILITY>
13.613230919300054

> <JCHEM_BIOAVAILABILITY>
1

> <JCHEM_DONOR_COUNT>
4

> <JCHEM_FORMAL_CHARGE>
0

> <JCHEM_GHOSE_FILTER>
0

> <JCHEM_IUPAC>
2,3,6,7,8,9-hexahydro-1H-purine-2,6,8-trione

> <ALOGPS_LOGP>
-1.12

> <JCHEM_LOGP>
-1.5441929356666664

> <ALOGPS_LOGS>
-1.98

> <JCHEM_MDDR_LIKE_RULE>
0

> <JCHEM_NUMBER_OF_RINGS>
2

> <JCHEM_PHYSIOLOGICAL_CHARGE>
0

> <JCHEM_PKA>
8.972761778718843

> <JCHEM_PKA_STRONGEST_ACIDIC>
7.246926773305706

> <JCHEM_PKA_STRONGEST_BASIC>
-6.523072814060841

> <JCHEM_POLAR_SURFACE_AREA>
99.33000000000001

> <JCHEM_REFRACTIVITY>
45.62859999999999

> <JCHEM_ROTATABLE_BOND_COUNT>
0

> <JCHEM_RULE_OF_FIVE>
1

> <ALOGPS_SOLUBILITY>
1.76e+00 g/l

> <JCHEM_TRADITIONAL_IUPAC>
uric acid

> <JCHEM_VEBER_RULE>
0

$$$$
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3D-SDF for HMDB0000289 (Uric acid)

HMDB0000289
     RDKit          3D
Uric acid
 16 17  0  0  0  0  0  0  0  0999 V2000
   -3.0705   -1.4091   -0.3526 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.9982   -0.7674   -0.2027 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1100    0.5558    0.0310 N   0  0  0  0  0  0  0  0  0  0  0  0
   -0.9825    1.2560    0.1933 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.0973    2.4897    0.4108 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.2759    0.6766    0.1303 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.5346    1.1267    0.2520 N   0  0  0  0  0  0  0  0  0  0  0  0
    2.4054    0.1204    0.0999 C   0  0  0  0  0  0  0  0  0  0  0  0
    3.6734    0.1557    0.1475 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.6648   -0.9940   -0.1241 N   0  0  0  0  0  0  0  0  0  0  0  0
    0.3588   -0.6813   -0.1105 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7841   -1.3620   -0.2698 N   0  0  0  0  0  0  0  0  0  0  0  0
   -3.0443    1.0316    0.0860 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.8046    2.1129    0.4377 H   0  0  0  0  0  0  0  0  0  0  0  0
    2.0787   -1.9250   -0.2776 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7095   -2.3867   -0.4511 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  2  0
  2  3  1  0
  3  4  1  0
  4  5  2  0
  4  6  1  0
  6  7  1  0
  7  8  1  0
  8  9  2  0
  8 10  1  0
 10 11  1  0
 11 12  1  0
 12  2  1  0
 11  6  2  0
  3 13  1  0
  7 14  1  0
 10 15  1  0
 12 16  1  0
M  END
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PDB for HMDB0000289 (Uric acid)

HEADER    PROTEIN                                 04-SEP-20   NONE
TITLE     NULL                                                        
COMPND    NULL                                                        
SOURCE    NULL                                                        
KEYWDS    NULL                                                        
EXPDTA    NULL                                                        
AUTHOR    Marvin                                                      
REVDAT   1   04-SEP-20         0                                  
HETATM    1  O   UNK     0       7.591   4.383   0.000  0.00  0.00           O+0
HETATM    2  C   UNK     0       6.258   3.613   0.000  0.00  0.00           C+0
HETATM    3  N   UNK     0       6.258   2.073   0.000  0.00  0.00           N+0
HETATM    4  C   UNK     0       4.924   1.303   0.000  0.00  0.00           C+0
HETATM    5  O   UNK     0       4.924  -0.237   0.000  0.00  0.00           O+0
HETATM    6  C   UNK     0       3.590   2.073   0.000  0.00  0.00           C+0
HETATM    7  C   UNK     0       3.590   3.613   0.000  0.00  0.00           C+0
HETATM    8  N   UNK     0       4.924   4.383   0.000  0.00  0.00           N+0
HETATM    9  N   UNK     0       2.126   4.089   0.000  0.00  0.00           N+0
HETATM   10  C   UNK     0       1.220   2.843   0.000  0.00  0.00           C+0
HETATM   11  O   UNK     0      -0.320   2.843   0.000  0.00  0.00           O+0
HETATM   12  N   UNK     0       2.126   1.597   0.000  0.00  0.00           N+0
CONECT    1    2                                                            
CONECT    2    1    3    8                                                  
CONECT    3    2    4                                                       
CONECT    4    3    5    6                                                  
CONECT    5    4                                                            
CONECT    6    4    7   12                                                  
CONECT    7    6    8    9                                                  
CONECT    8    7    2                                                       
CONECT    9    7   10                                                       
CONECT   10    9   11   12                                                  
CONECT   11   10                                                            
CONECT   12   10    6                                                       
MASTER        0    0    0    0    0    0    0    0   12    0   26    0
END
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3D PDB for HMDB0000289 (Uric acid)

COMPND    HMDB0000289
HETATM    1  O1  UNL     1      -3.070  -1.409  -0.353  1.00  0.00           O  
HETATM    2  C1  UNL     1      -1.998  -0.767  -0.203  1.00  0.00           C  
HETATM    3  N1  UNL     1      -2.110   0.556   0.031  1.00  0.00           N  
HETATM    4  C2  UNL     1      -0.982   1.256   0.193  1.00  0.00           C  
HETATM    5  O2  UNL     1      -1.097   2.490   0.411  1.00  0.00           O  
HETATM    6  C3  UNL     1       0.276   0.677   0.130  1.00  0.00           C  
HETATM    7  N2  UNL     1       1.535   1.127   0.252  1.00  0.00           N  
HETATM    8  C4  UNL     1       2.405   0.120   0.100  1.00  0.00           C  
HETATM    9  O3  UNL     1       3.673   0.156   0.147  1.00  0.00           O  
HETATM   10  N3  UNL     1       1.665  -0.994  -0.124  1.00  0.00           N  
HETATM   11  C5  UNL     1       0.359  -0.681  -0.111  1.00  0.00           C  
HETATM   12  N4  UNL     1      -0.784  -1.362  -0.270  1.00  0.00           N  
HETATM   13  H1  UNL     1      -3.044   1.032   0.086  1.00  0.00           H  
HETATM   14  H2  UNL     1       1.805   2.113   0.438  1.00  0.00           H  
HETATM   15  H3  UNL     1       2.079  -1.925  -0.278  1.00  0.00           H  
HETATM   16  H4  UNL     1      -0.709  -2.387  -0.451  1.00  0.00           H  
CONECT    1    2    2
CONECT    2    3   12
CONECT    3    4   13
CONECT    4    5    5    6
CONECT    6    7   11   11
CONECT    7    8   14
CONECT    8    9    9   10
CONECT   10   11   15
CONECT   11   12
CONECT   12   16
END
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SMILES for HMDB0000289 (Uric acid)

O=C1NC2=C(N1)C(=O)NC(=O)N2
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INCHI for HMDB0000289 (Uric acid)

InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12)
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View in JSmolView Stereo Labels
Synonyms
Chemical FormulaC5H4N4O3
Average Molecular Weight168.1103
Monoisotopic Molecular Weight168.028340014
IUPAC Name2,3,6,7,8,9-hexahydro-1H-purine-2,6,8-trione
Traditional Nameuric acid
CAS Registry Number69-93-2
SMILES
O=C1NC2=C(N1)C(=O)NC(=O)N2
InChI Identifier
InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12)
InChI KeyLEHOTFFKMJEONL-UHFFFAOYSA-N
Chemical Taxonomy
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.
KingdomOrganic compounds
Super ClassOrganoheterocyclic compounds
ClassImidazopyrimidines
Sub ClassPurines and purine derivatives
Direct ParentXanthines
Alternative Parents
Substituents
  • Xanthine
  • 6-oxopurine
  • Purinone
  • Alkaloid or derivatives
  • Pyrimidone
  • Pyrimidine
  • Azole
  • Imidazole
  • Heteroaromatic compound
  • Vinylogous amide
  • Lactam
  • Urea
  • Azacycle
  • Hydrocarbon derivative
  • Organic oxide
  • Organooxygen compound
  • Organonitrogen compound
  • Organic nitrogen compound
  • Organopnictogen compound
  • Organic oxygen compound
  • Aromatic heteropolycyclic compound
Molecular FrameworkAromatic heteropolycyclic compounds
External Descriptors
Ontology
Physiological effect
Health effect
Disposition
Biological locationRoute of exposureSource
Process
Naturally occurring process
Role
Industrial applicationBiological role
Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting Point> 300 °CNot Available
Boiling PointNot AvailableNot Available
Water Solubility0.06 mg/mLNot Available
LogP-2.17NAHUM,A & HORVATH,C (1980)
Experimental Chromatographic Properties

Experimental Collision Cross Sections

Adduct TypeData SourceCCS Value (Å2)Reference
[M-H]-Astarita_neg123.030932474
[M-H]-Baker127.07930932474
[M-H]-McLean127.430932474
[M-H]-MetCCS_test_neg123.230932474
[M+H]+Baker131.030932474
[M-H]-Not Available125.7http://allccs.zhulab.cn/database/detail?ID=AllCCS00000367
[M+H]+Not Available131.0http://allccs.zhulab.cn/database/detail?ID=AllCCS00000367
Predicted Molecular Properties
Predicted Chromatographic Properties
Spectra
Biological Properties
Cellular Locations
  • Extracellular
  • Peroxisome
Biospecimen Locations
  • Amniotic Fluid
  • Bile
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue Locations
  • Adipose Tissue
  • Bladder
  • Brain
  • Epidermis
  • Erythrocyte
  • Intestine
  • Kidney
  • Liver
  • Placenta
  • Platelet
  • Prostate
  • Skeletal Muscle
  • Spleen
Pathways
Normal Concentrations
Abnormal Concentrations
Associated Disorders and Diseases
Disease References
Diabetes mellitus type 2
  1. Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed:11887176 ]
Impaired glucose tolerance
  1. Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed:11887176 ]
Gout
  1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Lesch-Nyhan syndrome
  1. Nyhan WL: Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar;14(1):1-10. [PubMed:15804753 ]
  2. 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:15965771 ]
  3. 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:11307586 ]
Multiple sclerosis
  1. Toncev G, Milicic B, Toncev S, Samardzic G: Serum uric acid levels in multiple sclerosis patients correlate with activity of disease and blood-brain barrier dysfunction. Eur J Neurol. 2002 May;9(3):221-6. [PubMed:11985629 ]
Bacterial meningitis
  1. Peng F, Zhang B, Zhong X, Li J, Xu G, Hu X, Qiu W, Pei Z: Serum uric acid levels of patients with multiple sclerosis and other neurological diseases. Mult Scler. 2008 Mar;14(2):188-96. Epub 2007 Oct 17. [PubMed:17942520 ]
Cachexia
  1. Doehner W, Rauchhaus M, Florea VG, Sharma R, Bolger AP, Davos CH, Coats AJ, Anker SD: Uric acid in cachectic and noncachectic patients with chronic heart failure: relationship to leg vascular resistance. Am Heart J. 2001 May;141(5):792-9. [PubMed:11320368 ]
Uremia
  1. Duranton F, Cohen G, De Smet R, Rodriguez M, Jankowski J, Vanholder R, Argiles A: Normal and pathologic concentrations of uremic toxins. J Am Soc Nephrol. 2012 Jul;23(7):1258-70. doi: 10.1681/ASN.2011121175. Epub 2012 May 24. [PubMed:22626821 ]
  2. Vanholder R, De Smet R, Glorieux G, Argiles A, Baurmeister U, Brunet P, Clark W, Cohen G, De Deyn PP, Deppisch R, Descamps-Latscha B, Henle T, Jorres A, Lemke HD, Massy ZA, Passlick-Deetjen J, Rodriguez M, Stegmayr B, Stenvinkel P, Tetta C, Wanner C, Zidek W: Review on uremic toxins: classification, concentration, and interindividual variability. Kidney Int. 2003 May;63(5):1934-43. doi: 10.1046/j.1523-1755.2003.00924.x. [PubMed:12675874 ]
Stomach cancer
  1. Yu L, Aa J, Xu J, Sun M, Qian S, Cheng L, Yang S, Shi R: Metabolomic phenotype of gastric cancer and precancerous stages based on gas chromatography time-of-flight mass spectrometry. J Gastroenterol Hepatol. 2011 Aug;26(8):1290-7. doi: 10.1111/j.1440-1746.2011.06724.x. [PubMed:21443661 ]
Schizophrenia
  1. Xuan J, Pan G, Qiu Y, Yang L, Su M, Liu Y, Chen J, Feng G, Fang Y, Jia W, Xing Q, He L: Metabolomic profiling to identify potential serum biomarkers for schizophrenia and risperidone action. J Proteome Res. 2011 Dec 2;10(12):5433-43. doi: 10.1021/pr2006796. Epub 2011 Nov 8. [PubMed:22007635 ]
  2. Cai HL, Li HD, Yan XZ, Sun B, Zhang Q, Yan M, Zhang WY, Jiang P, Zhu RH, Liu YP, Fang PF, Xu P, Yuan HY, Zhang XH, Hu L, Yang W, Ye HS: Metabolomic analysis of biochemical changes in the plasma and urine of first-episode neuroleptic-naive schizophrenia patients after treatment with risperidone. J Proteome Res. 2012 Aug 3;11(8):4338-50. doi: 10.1021/pr300459d. Epub 2012 Jul 26. [PubMed:22800120 ]
Sulfite oxidase deficiency, ISOLATED
  1. Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30. [PubMed:27289259 ]
  2. Choong T. et al. (2010). Clinical and Laboratory Barriers to the Timely Diagnosis of Sulphite Oxidase Deficiency. Proceedings of Singapore Healthcare, 19(2), 94-100.. Proceedings of Singapore Healthcare.
Xanthinuria type 1
  1. 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:3818951 ]
  2. 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:23249873 ]
  3. 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:25370766 ]
Molybdenum cofactor deficiency
  1. Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W: Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. J Inherit Metab Dis. 2003;26(1):80-2. [PubMed:12872846 ]
  2. Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30. [PubMed:27289259 ]
  3. van Gennip AH, Abeling NG, Stroomer AE, Overmars H, Bakker HD: The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. J Inherit Metab Dis. 1994;17(1):142-5. [PubMed:8051926 ]
Primary hypomagnesemia
  1. Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M: Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Intern Med. 1999 Mar;38(3):261-5. [PubMed:10337938 ]
Fructose-1,6-diphosphatase deficiency
  1. Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM: Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. [PubMed:4341015 ]
Phosphoribosylpyrophosphate Synthetase Superactivity
  1. 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:4340256 ]
  2. 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:12847698 ]
Fanconi syndrome
  1. Cheng HM, Jap TS, Ho LT: Fanconi syndrome: report of a case. J Formos Med Assoc. 1990 Dec;89(12):1115-7. [PubMed:1982686 ]
Cerebral creatine deficiency syndrome 2
  1. Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005 Mar 1;133A(2):122-7. [PubMed:15651030 ]
D-Lactic Acidosis
  1. Duran M, Van Biervliet JP, Kamerling JP, Wadman SK: D-lactic aciduria, an inborn error of metabolism? Clin Chim Acta. 1977 Feb 1;74(3):297-300. [PubMed:832430 ]
Long-chain Fatty Acids, Defect in Transport of
  1. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006. [PubMed:3185635 ]
congenital disorder of glycosylation CDG-Ia
  1. Harding BN, Dunger DB, Grant DB, Erdohazi M: Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):385-90. [PubMed:3162953 ]
Molybdenium co-factor deficiency
  1. 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:3169394 ]
Fanconi Bickel syndrome
  1. Nirupama Gupta, Bimota Nambam, David A. Weinstein, and Lawrence R. Shoemaker (2016). Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review . Journal of Inborn Errors of Metabolism and Screening.
Degenerative disc disease
  1. 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:6656991 ]
Meningitis
  1. Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed:11805243 ]
Adenylosuccinate lyase deficiency
  1. Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed:15571235 ]
3-Methyl-crotonyl-glycinuria
  1. de Kremer RD, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002 Mar;17(1):13-8. [PubMed:11893004 ]
Colorectal cancer
  1. 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:27275383 ]
  2. 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:27015276 ]
  3. 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:25037050 ]
Canavan disease
  1. 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:16139832 ]
Fructose intolerance, hereditary
  1. Steinmann B, Gitzelmann R: The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297-316. [PubMed:6268573 ]
Nucleotide Depletion Syndrome
  1. Page T, Yu A, Fontanesi J, Nyhan WL: Developmental disorder associated with increased cellular nucleotidase activity. Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11601-6. [PubMed:9326656 ]
Associated OMIM IDs
  • 125853 (Diabetes mellitus type 2)
  • 138900 (Gout)
  • 300322 (Lesch-Nyhan syndrome)
  • 126200 (Multiple sclerosis)
  • 137215 (Stomach cancer)
  • 181500 (Schizophrenia)
  • 272300 (Sulfite oxidase deficiency, ISOLATED)
  • 278300 (Xanthinuria type 1)
  • 248250 (Primary hypomagnesemia)
  • 229700 (Fructose-1,6-diphosphatase deficiency)
  • 300661 (Phosphoribosylpyrophosphate Synthetase Superactivity)
  • 612736 (Cerebral creatine deficiency syndrome 2)
  • 245450 (D-Lactic Acidosis)
  • 603376 (Long-chain Fatty Acids, Defect in Transport of)
  • 212065 (congenital disorder of glycosylation CDG-Ia)
  • 252150 (Molybdenium co-factor deficiency)
  • 227810 (Fanconi Bickel syndrome)
  • 103050 (Adenylosuccinate lyase deficiency)
  • 210200 (3-Methyl-crotonyl-glycinuria)
  • 114500 (Colorectal cancer)
  • 271900 (Canavan disease)
  • 229600 (Fructose intolerance, hereditary)
DrugBank IDDB08844
Phenol Explorer Compound IDNot Available
FooDB IDFDB015350
KNApSAcK IDC00007301
Chemspider ID1142
KEGG Compound IDC00366
BioCyc IDURATE
BiGG ID34768
Wikipedia LinkUric_acid
METLIN ID88
PubChem Compound1175
PDB IDNot Available
ChEBI ID17775
Food Biomarker OntologyNot Available
VMH IDURATE
MarkerDB IDMDB00000135
Good Scents IDNot Available
References
Synthesis ReferenceBrenner-Holzach, O.; Leuthardt, F. Uric acid formation from glucose carbon in Drosophila melanogaster. Preliminary report. Helvetica Chimica Acta (1963), 46(4), 1426-8.
Material Safety Data Sheet (MSDS)Not Available
General References

Enzymes

Enzyme Details
1. Xanthine dehydrogenase/oxidase
General function:
Involved in oxidoreductase activity
Specific function:
Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).
Gene Name:
XDH
Uniprot ID:
P47989
Molecular weight:
146422.99
Reactions
Xanthine + Water + Oxygen → Uric acid + Hydrogen peroxidedetails
Xanthine + NAD + Water → Uric acid + NADH + Hydrogen Iondetails
Enzyme Details
2. Glycogen phosphorylase, liver form
General function:
Involved in phosphorylase activity
Specific function:
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Gene Name:
PYGL
Uniprot ID:
P06737
Molecular weight:
93133.25
References
  1. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed:17139284 ]
  2. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed:17016423 ]