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medium-chain acyl-CoA dehydrogenase deficiency


Definition: the most common fatty acid oxidation disorder, presenting as acute episodes triggered by prolonged fasting for more than 12–16 hours, with hypoglycemia, vomiting, and lethargy, which may progress to seizures, coma, or cardiopulmonary collapse, usually presenting before age 3.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.