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 Data version April 2024

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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.

Clinical Trials

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