phosphoribosylpyrophosphate synthetase superactivity (DOID:0111260)
Alliance: disease page
Synonyms: PRPP synthetase superactivity; PRPS1 superactivity
Alt IDs: OMIM:300661, MESH:C567064, ORDO:3222, UMLS_CUI:C1970827
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.