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

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, whe...

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Bibliographic Details
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
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Description
Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.55.6288