Term Name: | phosphoribosylpyrophosphate synthetase superactivity |
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Synonyms: | PRPP synthetase superactivity, PRPS1 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. |
Ontology: | Human Disease [DOID:0111260] ( DOID:0111260 ) |