Methionine synthase reductase deficiency

(CblE disease)

Synonym(s)
- Homocystinuria-megaloblastic anemia, cblE type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTRR / Methionine Synthase Reductase
  5p15.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methionine synthase reductase
Disease group(s)
- 21.9.2 Disorders of intracellular cobalamin metabolism