medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
a defect in mitochondrial beta oxidation due to a mutation in the gene (locus: 1p31) encoding acyl-CoA dehydrogenase that acts on medium chain length fatty acids. It is characterized by recurring episodes of hypoglycemia, vomiting, and lethargy, with urinary excretion of medium-chain dicarboxylic acids, minimal ketogenesis, and low plasma and tissue levels of carnitine.

Medical dictionary. 2011.

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