Суперактивність фосфорибозилпірофосфатсинтетази

Визначення(English summary)

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.