| umls-concept:C0268611 | skos:definition | JABL: An inborn error of methylcobalamin metabolism with a deficiency of the enzyme tetrahydrofolate-methyltransferase (E.C.2.1.1.13) causing megaloblastic anemia, moderate to severe developmental delay, lethargy, anorexia, and homocystinuria.,NCI: A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. | lld:umls |
