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Up to: Hereditary peripheral neuropathy · Inborn mitochondrial metabolism disorder · Tricarboxylic acid cycle disorder
Fumaric aciduria
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.
This condition has no sub-types.