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

摘要

Background: Despite ACADS (aryl-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 beta-oxidation still remains, however, unclear.