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Article

[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation].

Ugeskrift for laeger - 17 Feb 1992

Gregersen N, Winter V, Andresen B S, Kølvraa S, Christensen E, Petersen B N, Bolund L A

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal metabolic disease, which is characterized by non-ketotic hypoglycemia and lethargy. The disease manifests itself by periodic attacks in connection with infections and periods of fasting, or suddenly as unexpected child death or "near miss". Characterization of a prevalent disease-causing mutation (G985) in the MCAD gene has increased the...

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PMID: 1539377

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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