Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. Disease data Classification Disease Synonyms PRPP synthetase superactivity Nadczynność syntetazy PRPP PRPS1 superactivity PRPS1 superactivity ORPHA code 3222 OMIM code 300661 ICD10 code E79.8 ICD11 code 5C55.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl