Article
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.
Clinical and translational science - 1 Jan 2022
Stenlid Rasmus, Olsson David, Cen Jing, Manell Hannes, Haglind Charlotte, Chowdhury Azazul Islam, Bergsten Peter, Nordenström Anna, Halldin Maria
Abstract excerpt
Inborn errors of mitochondrial fatty acid oxidation (FAO), such as medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) affects cellular function and whole-body metabolism. Carnitine uptake deficiency (CUD) disturbs the transportation of fatty acids into the mitochondria, but when treated is a mild disease without significant effects on FAO. For...
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