Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

doi:10.1016/j.cca.2017.05.026

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Article

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2017

Dessein Anne-Frédérique, Fontaine Monique, Joncquel-Chevalier Curt Marie, Briand Gilbert, Sechter Claire, Mention-Mulliez Karine, Dobbelaere Dries, Douillard Claire, Lacour Arnaud, Redonnet-Vernhet Isabelle, Lamireau Delphine, Barth Magalie, Minot-Myhié Marie-Christine, Kuster Alice, de Lonlay Pascale, Gregersen Niels, Acquaviva Cécile, Vianey-Saban Christine, Vamecq Joseph

Abstract excerpt

BACKGROUND: Despite ACADS (acyl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C>T and c.625G>A) are considered to be non-pathogenic, encoded proteins are known to exhibit altered kinetics. Whether or not, they might affect overall fatty acid β-oxidation still remains, however, unclear. METHODS: De novo biosynthesis of acylcarnitines by whole blood samples incubated with deuterated palmitate...

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PMID: 28532786
DOI: 10.1016/j.cca.2017.05.026

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ACADS

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