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.
MONDO:0010395
phosphoribosylpyrophosphate synthetase superactivity
is_a
severe PRPP synthetase superactivity
exact
severe PRPS1 superactivity
exact