Homocystinuria-Megaloblastic Anemia, cblE Complementation Type

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - HMAE - Methylcobalamin Deficiency, cblE Type