Severe phosphoribosylpyrophosphate synthetase superactivity

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Severe phosphoribosylpyrophosphate synthetase superactivity

Synonyms: Severe PRPP synthetase superactivity | Severe PRPS1 superactivity

A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity an X-linked disorder of purine metabolism characterized by early onset hyperuricemia and hyperuricosuria and clinically manifesting with urolithiasis gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss hypotonia and ataxia.

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 October 2023.

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Severe 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.