mild phosphoribosylpyrophosphate synthetase superactivity
Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
MONDO:0010395
phosphoribosylpyrophosphate synthetase superactivity
is_a
mild PRPP synthetase superactivity
exact
mild PRPS1 superactivity
exact