KEGG   DISEASE: Phosphoribosylpyrophosphate synthetase superactivity
Entry
H00196                      Disease                                
Name
Phosphoribosylpyrophosphate synthetase superactivity
Description
Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout.
Category
Inherited metabolic disorder
Brite
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
     H00196  Phosphoribosylpyrophosphate synthetase superactivity
Pathway
hsa00030  Pentose phosphate pathway
hsa00230  Purine metabolism
Gene
PRPS1 [HSA:5631] [KO:K00948]
Other DBs
ICD-11: 5C55.0Y
ICD-10: E79.8
MeSH: C567064
OMIM: 300661
Reference
PMID:16176880
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
DOI:10.1016/j.ymgme.2005.07.027
Reference
PMID:10066814
  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)
DOI:10.1074/jbc.274.11.7482
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)
DOI:10.1074/jbc.271.33.19894

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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