Methionine synthase deficiency

(cblG disease)

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

Disease
External link(s)
Gene
- MTR / 5-Methyltetrahydrofolate-Homocysteine Methyltransferase
  1q43
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 5-methyltetrahydrofolate--homocysteine methyltransferase
Pathway
- Metabolism of sulfur-containing amino acids and hydrogen sulfide
Disease group(s)
- 1.5 Disorders of the metabolism of sulfur-containing amino acids