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Volume 360:838-840 February 19, 2009 Number 8
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Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

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To the Editor: Carnitine palmitoyltransferase II (CPT2) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. The most common form of this disorder is characterized by muscle stiffness, myalgia, and exercise intolerance,1,2 and current dietary approaches often do not prevent attacks of rhabdomyolysis. We found that bezafibrate, a commonly used hypolipidemic drug,3 restored the capacity for normal fatty acid oxidation in muscle cells from patients with a mild form of CPT2 deficiency by stimulating the expression of the mutated gene.4

We evaluated the efficacy of bezafibrate as a treatment for the mild form of CPT2 deficiency in . . . [Full Text of this Article]


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