Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants - 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; et al. (Clinica chimica acta, 2017)
Keywords: ACADS; ACADS pathogenic mutation; ACADS susceptibility variants (c.511C > T and c.625G > A); Acyl-CoA Dehydrogenase - deficiency; Acyl-CoA Dehydrogenase - genetics; Child, Preschool; Female; Genetic Predisposition to Disease - genetics; Genotype; Humans; In situ fluxomic assessment of protein function; Infant; Infant, Newborn; Life Sciences; Male; Metabolic Flux Analysis; Mitochondria - metabolism; Oxidation-Reduction; Palmitic Acid - metabolism; Phenotype; Polymorphism, Single Nucleotide; SCAD deficiency; SCAD functional impairment; Short-chain acyl-CoA dehydrogenase [SCAD]; SCAD deficiency; ACADS susceptibility variants (c.511C>T and c.625G>A); SCAD functional impairment; In situ fluxomic assessment of protein function; ACADS; Short-chain acyl-CoA dehydrogenase [SCAD]; ACADS pathogenic mutation; POPULATION; SCAD GENE; of protein function; ACADS susceptibility variants (c.511C > T; SCAD functional; DEFICIENCY; impairment; and c.625G > A; FREQUENCY; ACADS Short-chain acyl-CoA dehydrogenase [SCAD]; COMMON; In situ fluxomic assessment; NEWBORN BLOOD SPOTS