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. Hereditary xanthinuria is classified into three categories. 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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00192  Xanthinuria
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
hsa00230  Purine metabolism
hsa04122  Sulfur relay system
Network
nt06025  Molybdenum cofactor biosynthesis
  Element
N00889  XDH deficiency in hypoxanthine oxidation
N00891  MOCOS deficiency in 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
  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
  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
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)
DOI:10.1046/j.1523-1755.2000.00082.x
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)
DOI:10.1172/JCI119421
LinkDB

» Japanese version

DBGET integrated database retrieval system