PhenomeGene — Human Disease Gene Website SeriesMDH2

Publications

Ait-El-Mkadem S et al. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.Am J Hum Genet, 2017. 100(1): p. 151-159. PMID: 27989324.

Laemmle A et al. Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Mol Genet Metab Rep, 2021. 29: p. 100814. PMID: 34712577.

Ticci C et al. Bi-allelic variants in MDH2: Expanding the clinical phenotype.Clin Genet, 2022. 101(2): p. 260-264. PMID: 34766628.

Priestley JRC et al. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Mol Genet Metab Rep, 2022. 33: p. 100931. PMID: 36420423.