fumarase deficiency (DOID:0111261)
Alliance: disease page
Synonyms: FMRD; fumaric aciduria
Alt IDs: OMIM:606812, MESH:C538191, ORDO:24, UMLS_CUI:C0342770, UMLS_CUI:C2936826
Definition: An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.