5,10-methenyltetrahydrofolate synthetase deficiency

(MTHFS deficiency)

Synonym(s)
- 5-formyltetrahydrofolate cycloligase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTHFS / Methylenetetrahydrofolate Synthase
  14q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylenetetrahydrofolate synthase
Disease group(s)
- 21.8 Disorders of folate metabolism