Shima, Atsushi Saiseikai Noe Hospital
Yasuno, Tetsuhiko Fukuoka University
Yamada, Kenji University of Shimane
Yamaguchi, Miyoko Tokushima University
Kohno, Ryuichi Saiseikai Noe Hospital
Yamaguchi, Seiji University of Shimane
Kido, Hiroshi Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Fukuda, Hidetoshi Saiseikai Noe Hospital
carnitine palmitoyltransferase II deficiency
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.
The Japanese Society of Internal Medicine
The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
|DOI (Published Version)|
|URL ( Publisher's Version )|
Institute of Advanced Medical Sciences