Severe phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Definition
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.
Also known as severe PRPP synthetase superactivity, severe PRPS1 superactivity — per MONDO