First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L

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Author(s)

    • Yasuno Tetsuhiko
    • Department of Nephrology and Rheumatology, Department of Internal Medicine, Fukuoka University School of Medicine, Japan
    • Yamada Kenji
    • Department of Pediatrics, School of Medicine, University of Shimane, Japan
    • Yamaguchi Seiji
    • Department of Pediatrics, School of Medicine, University of Shimane, Japan
    • Kido Hiroshi
    • Institute of Enzyme Research, Tokushima University, Japan

Abstract

<p>Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of CPT II deficiency is relatively benign and difficult to diagnose. The point mutation S113L in <i>CPT2</i> is very common in Caucasian patients, whereas F383Y is the most common mutation among Japanese patients. We herein present a case of CPT II deficiency in a Japanese patient homozygous for the missense mutation S113L. The patient showed a decreased frequency of rhabdomyolysis recurrence after the administration of a diet containing medium-chain triglyceride oil and supplementation with carnitine and bezafibrate. </p>

Journal

  • Internal Medicine

    Internal Medicine 55(18), 2659-2661, 2016

    The Japanese Society of Internal Medicine

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