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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Severe phosphoribosylpyrophosphate synthetase superactivity?
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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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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