Three Japanese patients with glucose transporter type 1 deficiency syndrome.
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.
Fujii
Tatsuya
T
Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan. tatsu-fu@mx.biwa.ne.jp
Ho
Yuan-Yuan
YY
Wang
Dong
D
De Vivo
Darryl C
DC
Miyajima
Tomoko
T
Wong
Hei-Yi
HY
Tsang
Po-Ting
PT
Shirasaka
Yukiyoshi
Y
Kudo
Takashi
T
Ito
Masatoshi
M
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
D051272:Glucose Transporter Type 1; D013912:Threonine; D014364:Tryptophan; D001120:Arginine; D008715:Methionine; D020155:3-Hydroxybutyric Acid