Conditions / Genetic
fumarase deficiency
info · Genetic
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
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.
Signs and symptoms
- Hepatic failure
- Mitochondrial swelling
- Agenesis of corpus callosum
- Ventriculomegaly
- Intrahepatic cholestasis
- Increased urine succinate level
- Polyhydramnios
- Elevated urine fumaric acid level
- Decreased fumarate hydratase activity
- Aminoaciduria
Also known as: FMRD; fumaric aciduria