Article
Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency.
Biochimie - 1 Oct 2022
Vamecq Joseph, Masso Vincent, Bancel Léo-Paul, Jannin Arnaud, Dessein Anne-Frédérique, Cardot-Bauters Catherine, Pigny Pascal
Abstract excerpt
Apart from the oncometabolite succinate, little studies have appeared on extra-mitochondrial pathways in Succinate Dehydrogenase (SDH) genetic deficiency. The role of NADH/NAD+ redox status and dependent pathways was recently emphasized. Therein, fatty acid (FA) metabolism data were collected here in 30 patients with a loss of function (LOF) variant in one SDHx gene (either with a pheochromocytoma/paraganglioma...
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