MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
Sign Up to like & getrecommendations! 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
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
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DOI: 10.3390/nu14173605
Abstract: The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encoded… read more here.
Keywords: mitochondrial malate; aspartate shuttle; pyruvate carrier; treatment ... See more keywords