Medium chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Definition
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, acyl-CoA dehydrogenase, medium-chain deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD, MCAD deficiency, MCADD, medium chain acyl-CoA dehydrogenase deficiency, medium chain acyl-coenzyme A dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-Coenzyme A dehydrogenase deficiency — per MONDO