LAUSR

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

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0 Published in 2019 at "Human Genetics"

DOI: 10.1007/s00439-019-02063-z

Abstract: The reversible oxidation of l-malate to oxaloacetate is catalyzed by NAD(H)-dependent malate dehydrogenase (MDH). MDH plays essential roles in the malate–aspartate shuttle and the tricarboxylic acid cycle. These metabolic processes are important in mitochondrial NADH… read more here.

Keywords: aspartate shuttle; malate; mdh1 deficiency; malate aspartate ... See more keywords