Phosphoribosylpyrophosphate synthetase superactivity

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Phosphoribosylpyrophosphate synthetase superactivity

Synonyms: PRPP synthetase superactivity | PRPS1 superactivity

A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout urolithiasis and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Phosphoribosylpyrophosphate synthetase superactivity?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.