KEGG   DISEASE: H00194Help
Entry
H00194                      Disease                                

Name
Lesch-Nyhan syndrome;
Hypoxanthine-guanine phosophoribosyltransferase deficiency
Description
Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Purine metabolism
Gene
HPRT1; hypoxanthine phosphoribosyltransferase [HSA:3251] [KO:K00760]
Marker
Uric acid [CPD:C00366]
Drug
Allopurinol [DG:DG00779]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Torres RJ, Puig JG
  Title
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
  Journal
Orphanet J Rare Dis 2:48 (2007)
Reference
  Authors
Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J
  Title
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
  Journal
Clin Neuropharmacol 28:28-37 (2005)
Reference
  Authors
McCarthy G
  Title
Medical diagnosis, management and treatment of Lesch Nyhan disease.
  Journal
Nucleosides Nucleotides Nucleic Acids 23:1147-52 (2004)

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