title: Three Japanese patients with glucose transporter type 1 deficiency syndrome.
abstract: We report three Japanese patients with glucose transporter type 1 deficiency syndrome (Glut1DS). Two patients had a normal erythrocyte 3-O-methylglucose (3OMG) uptake, one with a previously reported T295M substitution and the other with a novel 12-bp insertion at nt 1034-1035, ins CAGCAGCTGTCT. The third patient, with deficient 3OMG uptake, had a previously reported hot-spot mutation, R333W. All three patients responded to a ketogenic diet. All patients showed a significant improvement in ataxia, with blood beta-hydroxybutyrate (BOHB) levels ranging from 0.1 to 3mM. BOHB levels of at least 3mM were necessary to control seizures, and higher ketone levels are recommended to meet brain energy needs during development. FDG-PET scan, performed before and after a ketogenic diet in the R333W patient, did not change despite a clinical improvement. This clinical condition is treatable and early diagnosis is important.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan. tatsu-fu@mx.biwa.ne.jp
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
authors.forename: Yuan-Yuan
authors.initials: YY
authors.lastname: Ho
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyajima
authors.forename: Hei-Yi
authors.initials: HY
authors.lastname: Wong
authors.forename: Po-Ting
authors.initials: PT
authors.lastname: Tsang
authors.forename: Yukiyoshi
authors.initials: Y
authors.lastname: Shirasaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Kudo
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ito
mesh_terms: D020155:3-Hydroxybutyric Acid / Q000097:blood; D000328:Adult; D001120:Arginine / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000097:blood / Q000000981:diagnostic imaging / Q000178:diet therapy / Q000235:genetics*; D001931:Brain Mapping; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000000981:diagnostic imaging / Q000178:diet therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008715:Methionine / Q000235:genetics; D020125:Mutation, Missense; D049268:Positron-Emission Tomography / Q000379:methods; D013912:Threonine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
chemical_list: D051272:Glucose Transporter Type 1; D013912:Threonine; D014364:Tryptophan; D001120:Arginine; D008715:Methionine; D020155:3-Hydroxybutyric Acid