title: Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Shioya
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan. Electronic address: htakuma@md.tsukuba.ac.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takuma
authors.affiliation: Department of Pediatrics, Shimane University School of Medicine, Shimane, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Ishii
authors.affiliation: Department of Neurology, Tsukuba Medical Center Hospital, Ibaraki, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Hiroki
authors.affiliation: Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.affiliation: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.affiliation: Department of Health Science, University of Fukui, Fukui, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Tamaoka
mesh_terms: D000328:Adult; D001629:Bezafibrate / Q000627:therapeutic use*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D006801:Humans; D000960:Hypolipidemic Agents / Q000627:therapeutic use*; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D012256:Riboflavin / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D044927:Electron-Transferring Flavoproteins; D000960:Hypolipidemic Agents; D007506:Iron-Sulfur Proteins; C116917:acylcarnitine; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; D002331:Carnitine; D012256:Riboflavin; D001629:Bezafibrate
keywords: Acylcarnitine profile; Adult onset; Bezafibrate; Glutaric acidemia type 2