Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

被引：92

作者：

Bonnefont, J. P. ^{[2
]}

Bastin, J. ^{[1
]}

Laforet, P. ^{[3
]}

Aubey, F. ^{[1
]}

Mogenet, A. ^{[4
]}

Romano, S. ^{[5
,6
]}

Ricquier, D. ^{[7
]}

Gobin-Limballe, S. ^{[1
]}

Vassault, A. ^{[7
]}

Behin, A. ^{[3
]}

Eymard, B. ^{[3
]}

Bresson, J. L. ^{[4
]}

Djouadi, F. ^{[1
]}

机构：

[1] Univ Paris 05, AP HP, INSERM, U747, Paris, France

[2] Univ Paris 05, Hop Necker Enfants Malad, INSERM, U 781, Paris, France

[3] Hop La Pitie Salpetriere, Ctr Reference Pathol Neuromusc Paris Est, Myol Inst, AP HP, Paris, France

[4] Hop Necker Enfants Malad, Clin Res Ctr Mother & Child CIC, Paris, France

[5] Hop Necker Enfants Malad, Metab Dept, Paris, France

[6] Hop Necker Enfants Malad, Reference Ctr Metab Dis, Paris, France

[7] Hop Necker Enfants Malad, Metab Biochem Lab, Paris, France

来源：

CLINICAL PHARMACOLOGY & THERAPEUTICS | 2010年 / 88卷 / 01期

关键词：

FATTY-ACID OXIDATION; PROLIFERATOR-ACTIVATED RECEPTORS; DELTA PPAR-DELTA; METABOLIC SYNDROME; II DEFICIENCY; DISORDERS; CHAIN; FIBROBLASTS; GENOTYPE; DEFECTS;

D O I：

10.1038/clpt.2010.55

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页码：101 / 108

页数：8

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