Mild phosphoribosylpyrophosphate synthetase superactivity

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Mild phosphoribosylpyrophosphate synthetase superactivity

Synonyms: Mild PRPP synthetase superactivity | Mild PRPS1 superactivity

A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity an X-linked disorder of purine metabolism characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria leading to urolithiasis and gout.

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 Data version December 2023

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Mild 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.