label: severe phosphoribosylpyrophosphate synthetase superactivity
label_lc: severe phosphoribosylpyrophosphate synthetase superactivity
description: 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.