Cytosolic malate dehydrogenase deficiency

Synonym(s)
- Developmental and epileptic encephalopathy type 88
Type

Disease
External link(s)
- IEMbase
Gene
- MDH1 / Malate Dehydrogenase 1
  2p15
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Malate dehydrogenase, cytosolic
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle