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Article

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.

Human mutation - 1 Mar 2000

Lilleväli H, Margus K, Ounap K, Metspalu A

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme responsible for large part of mitochondrial beta-oxidation of fatty acids and therefore stays on key position of cellular energy supply. In case of its deficiency, starvation, rapid growth periods or infections may cause fatal lack of energy, especially in the first years of life. MCAD deficiency is inherited in an autosomal recessive manner and it has been...

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Identifiers

PMID: 10679947
DOI: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N

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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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Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.PMID 10679947Read ↗

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