KEGG   DISEASE: Xanthinuria
Entry
H00192                      Disease                                
Name
Xanthinuria
  Subgroup
Molybdenum cofactor deficiency [DS:H02311]
Description
Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00192  Xanthinuria
Pathway-based classification of diseases [BR:br08402]
 Cofactor/vitamin metabolism
  nt06025  Molybdenum cofactor biosynthesis
   H00192  Xanthinuria
Pathway
hsa00230  Purine metabolism
hsa00790  Folate biosynthesis
Network
nt06025 Molybdenum cofactor biosynthesis
Gene
(XAN1) XDH [HSA:7498] [KO:K00106]
(XAN2) MOCOS [HSA:55034] [KO:K15631]
Other DBs
ICD-11: 5C55.00
ICD-10: E79.9
MeSH: C562584 C566358
OMIM: 278300 603592
Reference
PMID:29723117
  Authors
Sebesta I, Stiburkova B, Krijt J
  Title
Hereditary xanthinuria is not so rare disorder of purine metabolism.
  Journal
Nucleosides Nucleotides Nucleic Acids 37:324-328 (2018)
DOI:10.1080/15257770.2018.1460478
Reference
PMID:9153281 (XDH)
  Authors
Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O
  Title
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
  Journal
J Clin Invest 99:2391-7 (1997)
DOI:10.1172/JCI119421
Reference
PMID:10844591 (XDH)
  Authors
Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H
  Title
XDH gene mutation is the underlying cause of classical xanthinuria: a second report.
  Journal
Kidney Int 57:2215-20 (2000)
DOI:10.1046/j.1523-1755.2000.00082.x
Reference
PMID:14624414 (MOCOS)
  Authors
Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T
  Title
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
  Journal
Metabolism 52:1501-4 (2003)
DOI:10.1016/S0026-0495(03)00272-5

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Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (13)   

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