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
- MCADD
- Medium chain acyl-coenzyme A dehydrogenase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: 1-9 in 100,000
Age of Onset
- Infancy
- Neonatal
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