title: First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
abstract: 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.
authors.affiliation: Department of Neurology, Saiseikai Noe Hospital, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Shima
authors.forename: Tetsuhiko
authors.initials: T
authors.lastname: Yasuno
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamada
authors.forename: Miyoko
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Kohno
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kido
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Fukuda
mesh_terms: D044466:Asian People; D001629:Bezafibrate / Q000097:blood / Q000627:therapeutic use*; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use*; D002334:Carnitine O-Palmitoyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D019587:Dietary Supplements; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000178:diet therapy* / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000178:diet therapy* / Q000235:genetics; D008875:Middle Aged; D017354:Point Mutation; D012206:Rhabdomyolysis / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine; D001629:Bezafibrate