KEGG   DISEASE: H00196Help
Entry
H00196                      Disease                                

Name
Phosphoribosylpyrophosphate synthetase I superactivity
Description
Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Pentose phosphate pathway
Purine metabolism
Gene
PRPS1; phosphoribosylpyrophosphate synthetase [HSA:5631] [KO:K00948]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
Reference
  Authors
Ahmed M, Taylor W, Smith PR, Becker MA
  Title
Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.
  Journal
J Biol Chem 274:7482-8 (1999)
Reference
PMID:8702702
  Authors
Becker MA, Taylor W, Smith PR, Ahmed M
  Title
Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.
  Journal
J Biol Chem 271:19894-9 (1996)

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