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Article

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990

Kelly D P, Whelan A J, Ogden M L, Alpers R, Zhang Z F, Bellus G, Gregersen N, Dorland L, Strauss A W

Abstract excerpt

Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a common inherited defect in energy metabolism. Characterization of the mRNA encoding MCAD in a Dutch MCAD-deficient patient revealed an A----G change at nucleotide position 985 of the MCAD mRNA coding region. This point mutation results in the substitution of a glutamic acid for a lysine at amino acid position 304 of the mature protein. The single base...

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Identifiers

PMID: 2251268
DOI: 10.1073/pnas.87.23.9236
PMCID: PMC55139

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

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Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.PMID 2251268Read ↗

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Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.Semantic proximity Read ↗

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