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Medium chain acyl-CoA dehydrogenase deficiency

MONDO:0008721

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

Also known as: ACADM deficiency, Acyl-CoA dehydrogenase, medium chain, deficiency of, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD, MCAD deficiency, MCADD, acyl-CoA dehydrogenase, medium-chain deficiency, medium chain acyl-CoA dehydrogenase deficiency

7 clinical trials for this condition and its sub-types, 7 tagged with Medium chain acyl-CoA dehydrogenase deficiency itself.

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