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Article

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Human mutation - 1 Jan 1992

Tanaka K, Yokota I, Coates P M, Strauss A W, Kelly D P, Zhang Z, Gregersen N, Andresen B S, Matsubara Y, Curtis D

Abstract excerpt

Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids. MCAD deficiency is one of the most frequent inborn metabolic disorders in populations of northwestern European origin. In the compilation of data from a worldwide study of 172 unrelated patients each representing an independent pedigree, a total of 8 different mutations have been...

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Identifiers

PMID: 1363805
DOI: 10.1002/humu.1380010402

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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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Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.PMID 1363805Read ↗

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