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

• Published in: Internal Medicine 2016/09/15, Vol.55(18), pp.2659-2661
• Main Authors: Shima, Atsushi, Yasuno, Tetsuhiko, Yamada, Kenji, Yamaguchi, Miyoko, Kohno, Ryuichi, Yamaguchi, Seiji, Kido, Hiroshi, Fukuda, Hidetoshi
• Format: Article
• Language: English
• Subjects: Asian Continental Ancestry Group; Bezafibrate - blood; Bezafibrate - therapeutic use; Carnitine - blood; Carnitine - therapeutic use; Carnitine O-Palmitoyltransferase - blood; Carnitine O-Palmitoyltransferase - deficiency; Carnitine O-Palmitoyltransferase - genetics; carnitine palmitoyltransferase II deficiency; Dietary Supplements; Homozygote; Humans; Lipid Metabolism, Inborn Errors - blood; Lipid Metabolism, Inborn Errors - diet therapy; Lipid Metabolism, Inborn Errors - genetics; Male; Metabolism, Inborn Errors - blood; Metabolism, Inborn Errors - diet therapy; Metabolism, Inborn Errors - genetics; Middle Aged; mutation; Point Mutation; rhabdomyolysis; Rhabdomyolysis - diagnosis; Rhabdomyolysis - diet therapy; Rhabdomyolysis - genetics; Treatment Outcome
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.55.6288

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 CPT2 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.