Methylenetetrahydrofolate dehydrogenase 1 deficiency

(CIMAH)

Synonym(s)
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTHFD1 / Methylenetetrahydrofolate Dehydrogenase 1
  14q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylenetetrahydrofolate dehydrogenase [NADP+ dependent] 1, cytosolic
Disease group(s)
- 21.8 Disorders of folate metabolism