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Up to: Phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
This condition has no sub-types.