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Medium chain acyl-CoA dehydrogenase deficiency

^ http://www.orpha.net/ORDO/Orphanet_42


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.

Synonyms: MCAD deficiency, ACADM deficiency, MCADD, Medium chain acyl-coenzyme A dehydrogenase deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Term info

database cross reference
  • ICD-10:E71.3 (NTBT (narrower term maps to a broader term))
  • ICD-10:E71.3 (Attributed)
  • UMLS:C0220710 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:201450 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:C536038 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:C536038, UMLS:C0220710, OMIM:201450, ICD-10:E71.3

notation

ORPHA:42

Term relations

Subclass of: