Human genes for fumarase deficiency
Fumarase deficiency [DOID:0111261]
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.
Synonyms: fumarase deficiency, DOID:0111261, fumarase deficiencies, FMRD, fumaric aciduria ...