| Metadata | |
|---|---|
| ID | DOID:0111260 |
| Name | phosphoribosylpyrophosphate synthetase superactivity |
| Definition | An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. https://www.ncbi.nlm.nih.gov/pubmed/20301734, https://www.ncbi.nlm.nih.gov/pubmed/8253776 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723454008 |
| Subsets |
DO_rare_slim |
| Synonyms |
PRPP synthetase superactivity [EXACT] PRPS1 superactivity [EXACT] |
| Parent Relationships |