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Methylcobalamin deficiency type cblE
rareAn autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
- Identifiers
- MONDO:0009354 OMIM:236270Orphanet:2169
- Causal genes
- MTRR
- Also known as
- functional methionine synthase 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, cbl e type
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