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Bonnefont, J P; Bastin, J; Laforêt, P; Aubey, F; Mogenet, A; Romano, S; Ricquier, D; Gobin‐Limballe, S; Vassault, A; Behin, A; Eymard, B; Bresson, J L; Djouadi, F
Clinical pharmacology and therapeutics, July 2010, Letnik: 88, Številka: 1Journal Article
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. Clinical Pharmacology & Therapeutics (2010) 88 1, 101–108. doi: 10.1038/clpt.2010.55
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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