Mitochondrial malate dehydrogenase deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 51
Type

Disease
External link(s)
- IEMbase
Gene
- MDH2 / Malate Dehydrogenase 2
  7q11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Malate dehydrogenase, mitochondrial
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle
Child entries
- MDH2-related tumour disposition (?)