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.

Also known as: mild PRPP synthetase superactivity, mild PRPS1 superactivity

1 clinical trial for this condition and its sub-types, 0 tagged with Mild phosphoribosylpyrophosphate synthetase superactivity itself.