Adrianus J. Bakermans1, Michel van Weeghel2, Klaas Nicolay1, Jeanine J. Prompers1, Sander M. Houten2
1Biomedical NMR, Eindhoven University of Technology, Eindhoven, Netherlands; 2Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, Netherlands
Elevation of long-chain acylcarnitine levels is a hallmark of long-chain fatty acid β-oxidation disorders, and is accompanied by low free carnitine levels. To normalize carnitine concentration, carnitine supplementation has been proposed. However, this could provoke lipotoxic accumulation of long-chain acylcarnitines.