KEGG   DISEASE: Lesch-Nyhan syndrome
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00194  Lesch-Nyhan syndrome
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
     H00194  Lesch-Nyhan syndrome
Pathway
hsa00230  Purine metabolism
Gene
HPRT1; hypoxanthine phosphoribosyltransferase [HSA:3251] [KO:K00760]
Other DBs
ICD-11: 5C55.01
ICD-10: E79.1
MeSH: D007926
OMIM: 300322 300323
Reference
  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
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)
DOI:10.1097/01.wnf.0000152043.36198.25
Reference
  Authors
McCarthy G
  Title
Medical diagnosis, management and treatment of Lesch Nyhan disease.
  Journal
Nucleosides Nucleotides Nucleic Acids 23:1147-52 (2004)
DOI:10.1081/NCN-200027395
LinkDB

» Japanese version

DBGET integrated database retrieval system