Agent Commons Collaborative Research
Mild phosphoribosylpyrophosphate synthetase superactivity
rareMild 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.
- Identifiers
- MONDO:0018463 Orphanet:411536
- Also known as
- mild PRPP synthetase superactivity · mild PRPS1 superactivity
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