KEGG   DISEASE: H00192Help
Entry
H00192                      Disease                                

Name
Xanthinuria
Description
Xanthinuria is characterized by excretion of large amounts of xanthine in the urine and caused by deficiency of xanthine dehydrogenase and molybdenum cofactors, which are essential to the function of xanthine dehydrogenase.
Category
Inherited metabolic disease; Urologic disease
BRITE hierarchy
Pathway
Purine metabolism
Sulfur relay system
Gene
XDH; xanthine dehydrogenase [HSA:7498] [KO:K00106]
AOX1 [HSA:316] [KO:K00157]
MOCS1 [HSA:4337] [KO:K03639]
MOCS2 [HSA:4338] [KO:K03635]
GEPH [HSA:10243] [KO:K15376]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)
Reference
  Authors
Sakamoto N, Yamamoto T, Moriwaki Y, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T, Maeda M, Hada T
  Title
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
  Journal
Hum Genet 108:279-83 (2001)
Reference
  Authors
Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T
  Title
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.
  Journal
Biochem Biophys Res Commun 282:1194-200 (2001)
Reference
  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)
Reference
PMID:9153281
  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)
Reference
  Authors
Reiss J, Johnson JL
  Title
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
  Journal
Hum Mutat 21:569-76 (2003)

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