Agent Commons Collaborative Research

Medium chain acyl-CoA dehydrogenase deficiency

rare

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.

Causal genes
ACADM
Also known as
ACADM deficiency · ACADMD · acyl-CoA dehydrogenase medium chain deficiency of · Acyl-CoA dehydrogenase, medium chain, deficiency of · acyl-CoA dehydrogenase, medium-chain deficiency

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