KEGG   NETWORK: N01422
Entry
N01422                      Network                                
Name
HPRT1 deficiency in purine salvage pathway
Definition
(Hypoxanthine,Guanine) // HPRT1*
  Expanded
(C00262,C00242) // 3251v1
Class
nt06027 Purine salvage pathway
Type
Variant
Disease
H00194  Lesch-Nyhan syndrome
Gene
3251  HPRT1; hypoxanthine phosphoribosyltransferase 1
Variant
3251v1 (HPRT1*)  HPRT1 deficiency
Metabolite
C00262  Hypoxanthine
C00242  Guanine
Reference
PMID:18067674
  Authors
Torres RJ, Puig JG
  Title
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
  Journal
Orphanet J Rare Dis 2:48 (2007)
DOI:10.1186/1750-1172-2-48
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