disease has basis in dysfunction of disease caused by disruption of disease has basis in disruption of PRPS1 ribose phosphate diphosphokinase activity phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 ICD10:E79.8 MESH:C567064 MONDO:0010395 OMIM:300661 Orphanet:3222 PRPP synthetase superactivity PRPS1 superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). SCTID:723454008 UMLS:C1970827 gout, PRPS-related phosphoribosylpyrophosphate synthetase superactivity syndromic neurometabolic disease with X-linked intellectual disability inborn disorder of purine metabolism nephropathy secondary to a storage or other metabolic disease disease of catalytic activity