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[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death].

Comptes rendus des seances de la Societe de biologie et de ses filiales - 1 Jan 1995

Lecoq I, Mallet E, Bonté J B, Laroche D, Travert G

Abstract excerpt

MCAD deficiency is recognized as the most common hereditary defect of hepatic fatty acid oxidation. Clinical signs are somnolence progressing to lethargy potentially leading to coma. Death is the outcome of the first attack in about 20% of cases, suggesting sudden infant death syndrome (SIDS). A point mutation (adenine to guanine at position 985) in exon 11 of the MCAD gene represents 90% of alleles causing MCAD...

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PMID: 8590228

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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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