Medium chain acyl-CoA dehydrogenase deficiency

What is Medium chain acyl-CoA dehydrogenase deficiency?

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.

Other condition names

  • ACADM deficiency
  • Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
  • MCAD deficiency
  • Medium chain acyl-coenzyme A dehydrogenase deficiency

Inheritance type

Autosomal recessive


  • Worldwide: 1-9 in 100,000

Age of Onset

  • Infancy
  • Neonatal
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