Severe phosphoribosylpyrophosphate synthetase superactivity

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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://www.orphadata.org. Data version July 2024

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Severe phosphoribosylpyrophosphate synthetase superactivity?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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