has material basis in germline mutation in FH inborn mitochondrial metabolism disorder fumaric aciduria https://www.malacards.org/card/fumarase_deficiency UMLS:C0342770 GARD:0006476 DOID:0111261 Orphanet:24 MEDGEN:87458 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. OMIM:606812 SCTID:237983002 FMRD MESH:C538191 NANDO:2200520 fumarate hydratase deficiency fumaric aciduria MONDO:0011730 ICD9:282.3 fumarase deficiency tricarboxylic acid cycle disorder hereditary peripheral neuropathy