title: Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.
abstract: Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder characterized by myalgia, exercise intolerance, and rhabdomyolysis. We evaluate the efficacy of bezafibrate (BZ), a hypolipidemic drug, as a treatment for this form of CPT2 deficiency. A pilot trial was conducted with BZ in six patients for 6 months. There was a follow-up period of 3 years. The oxidation rates of the long-chain fatty acid derivative palmitoyl-CoA, measured in the mitochondria of the patients' muscles, were markedly lower than normal before treatment and increased significantly (+39 to +206%; P = 0.028) in all patients after BZ treatment. The evaluation of the therapeutic effects by the patients themselves (using the Short Form Health Survey (SF-36)), as well as by the physicians, indicated an improvement in the condition of the patients; there was an increase in physical activity and a decline in muscular pain. The results suggest that BZ has a therapeutic effect in the muscular form of CPT2 deficiency.
authors.affiliation: INSERM U 781, Université Paris Descartes, Necker-Enfants Malades Hospital, Paris, France.
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: J
authors.initials: J
authors.lastname: Bastin
authors.forename: P
authors.initials: P
authors.lastname: Laforêt
authors.forename: F
authors.initials: F
authors.lastname: Aubey
authors.forename: A
authors.initials: A
authors.lastname: Mogenet
authors.forename: S
authors.initials: S
authors.lastname: Romano
authors.forename: D
authors.initials: D
authors.lastname: Ricquier
authors.forename: S
authors.initials: S
authors.lastname: Gobin-Limballe
authors.forename: A
authors.initials: A
authors.lastname: Vassault
authors.forename: A
authors.initials: A
authors.lastname: Behin
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: J L
authors.initials: JL
authors.lastname: Bresson
authors.forename: F
authors.initials: F
authors.lastname: Djouadi
mesh_terms: D000203:Activities of Daily Living; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000096:biosynthesis / Q000235:genetics; D000328:Adult; D001629:Bezafibrate / Q000627:therapeutic use*; D002334:Carnitine O-Palmitoyltransferase / Q000096:biosynthesis* / Q000172:deficiency* / Q000235:genetics; D005080:Exercise Test; D005260:Female; D005500:Follow-Up Studies; D015971:Gene Expression Regulation, Enzymologic / Q000187:drug effects; D006801:Humans; D000960:Hypolipidemic Agents / Q000627:therapeutic use*; D008214:Lymphocytes / Q000187:drug effects / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology; D018482:Muscle, Skeletal / Q000187:drug effects / Q000201:enzymology; D009135:Muscular Diseases / Q000188:drug therapy* / Q000209:etiology* / Q000235:genetics; D010084:Oxidation-Reduction; D010101:Oxygen Consumption / Q000187:drug effects; D010146:Pain / Q000453:epidemiology / Q000209:etiology; D010171:Palmitoyl Coenzyme A / Q000378:metabolism; D010865:Pilot Projects; D012206:Rhabdomyolysis / Q000188:drug therapy / Q000201:enzymology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000960:Hypolipidemic Agents; D010171:Palmitoyl Coenzyme A; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002334:Carnitine O-Palmitoyltransferase; D001629:Bezafibrate