Methylcobalamin deficiency type cblE

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.

Also known as: functional methionine synthase deficiency type cblE, homocystinuria-megaloblastic anemia, cbl e type, methylcobalamin deficiency type cblE, HMAE, homocystinuria due to defect in methylation Cbl e, homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type, homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type, homocystinuria-megaloblastic anemia, cblE complementation type

23 clinical trials for this condition and its sub-types, 2 tagged with Methylcobalamin deficiency type cblE itself.