AICA-ribosiduria

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Synonyms: 5-amino-4-imidazole carboxamide ribosiduria | AICA-ribosiduria due to ATIC deficiency | AICAR transformylase/IMP cyclohydrolase deficiency | ATIC deficiency

A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment severe visual impairment ante-postnatal growth impairment severe scoliosis and frequently early-onset epilepsy.

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 June 2024

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AICA-ribosiduria?

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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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