Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Fumarase deficiency Niedobór fumarazy ORPHA code 24 OMIM code 606812 ICD10 code E88.8 ICD11 code 5C53.1 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl