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Article

Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.

Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2023

Madeira Catarina A, Anselmo Carolina, Costa João M, Bonito Cátia A, Ferreira Ricardo J, Santos Daniel J V A, Wanders Ronald J, Vicente João B, Ventura Fátima V, Leandro Paula

Abstract excerpt

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of MCAD. Importantly, after import into the mitochondria, MCAD must incorporate a molecule of flavin adenine dinucleotide (FAD) per subunit and assemble into tetramers. However, the effect of MCAD amino acid substitutions on FAD incorporation has not been...

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PMID: 37257730
DOI: 10.1016/j.bbadis.2023.166766

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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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