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Medium chain acyl-CoA dehydrogenase deficiency

Disease 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.

ORPHA:42

  • Synonym(s):
    • ACADM deficiency
    • Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
    • MCAD deficiency
    • MCADD
    • Medium chain acyl-coenzyme A dehydrogenase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 201450
  • UMLS: C0220710
  • MeSH: C536038
  • GARD: 540
  • MedDRA: -

Detailed information

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