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Fumaric aciduria

Disease definition

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.

ORPHA:24

  • Synonym(s):
    • Fumarase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 606812
  • UMLS: C0342770  C2936826
  • MeSH: C538191
  • GARD: 6476
  • MedDRA: -

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