Term Name:	fumarase deficiency
Synonyms:	FMRD, fumaric aciduria
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.
Ontology:	Human Disease [DOID:0111261]   ( DOID:0111261 )