Fumaric aciduria

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Synonyms: Fumarase deficiency

Fumaric aciduria (FA) an autosomal recessive metabolic disorder is most often characterized by early onset but non-specific clinical signs: hypotonia severe psychomotor impairment convulsions respiratory distress feeding difficulties and frequent cerebral malformations along with a distinctive facies. Some patients present with only moderate intellectual impairment.

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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Fumaric aciduria?

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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.

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Clinical Trials

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