KEGG   NETWORK: N00889
Entry
N00889                      Network                                

Name
XDH deficiency in hypoxanthine oxidation
Definition
Hypoxanthine -- XDH*
  Expanded
C00262 -- 7498v1
Class
nt06025 Molybdenum cofactor biosynthesis
Type
Variant
Disease
H00192  Xanthinuria
Gene
7498  XDH; xanthine dehydrogenase
Variant
7498v1 (XDH*)  XDH deficiency
Metabolite
C00262  Hypoxanthine
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
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