November 4, 2020

5-Phosphoribosyl-pyrophosphate synthetase

Phosphoribosylpyrophosphate

 (PRPPsynthetase 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. 1

  1. Phosphoribosylpyrophosphate synthetase superactivity – https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity