Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblE
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.
Also known as functional methionine synthase deficiency type cblE, homocystinuria-megaloblastic anemia, cbl e type, methylcobalamin deficiency type cblE — per MONDO