| H00196 | |
| H number | H00196 |
| 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 |
| Network | - |
| Gene | PRPS1 [HSA:5631] [KO:K00948] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 |