直近一年間の累計
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ID 114391
著者
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
Fukuda, Hidetoshi Saiseikai Noe Hospital
キーワード
carnitine palmitoyltransferase II deficiency
mutation
rhabdomyolysis
資料タイプ
学術雑誌論文
抄録
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.
掲載誌名
Internal Medicine
ISSN
13497235
出版者
The Japanese Society of Internal Medicine
55
18
開始ページ
2659
終了ページ
2661
発行日
2016-09-15
権利情報
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/).
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
先端酵素学研究所