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