methylcobalamin deficiency type cblE

Rare Disease

MONDO:0009354

Also Known As

functional methionine synthase deficiency type cblEhomocystinuria-megaloblastic anemia, cbl e typemethylcobalamin deficiency type cblEHMAEhomocystinuria due to defect in methylation Cbl ehomocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation typehomocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation typehomocystinuria-megaloblastic anemia, cblE complementation typemethylcobalamin deficiency, cblE typemethylmalonic aciduria and homocystinuria type cblEvitamin B12-responsive homocystinuria, cblE type

Definition

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