Phosphoribosylpyrophosphate synthetase superactivity
ORPHA:3222· ICD-10 E79.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal