PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

Summary Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of the PPAR (peroxisome proliferator activated receptor) signalling pathway, and this led us to test a possible pharmacological correction of FAO disorders by fibrates and other PPAR activators. This review presents the basic data supporting our initial hypothesis, summarizes the results obtained in cells from patients with CPT II (carnitine palmitoyltransferase II) or VLCAD (very long‐chain acyl‐CoA dehydrogenase) deficiency, and discusses the perspectives and limits of this approach for therapy of these disorders.