Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner. MDH2 encodes the mitochondrial isoform, which is integra...

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Bibliographic Details
Main Authors: Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Malate dehydrogenase
MDH2
Mitochondrial malate dehydrogenase
TCA cycle
Epileptic encephalopathy
Leigh syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692200091X

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http://www.sciencedirect.com/science/article/pii/S221442692200091X

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