First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.
Fung
Eva Lai-wah
EL
Department of Paediatrics, The Chinese University of Hong Kong, China. eva_fung@cuhk.edu.hk
Ho
Yuan Yuan
YY
Hui
Joannie
J
Wong
Jack Ho
JH
Ng
Tzi-Bun
TB
Fong
Nga-Yin Fion
NY
Klepper
Joerg
J
Tsui
Kwok-Wing Stephen
KW
D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D055423:Diet, Ketogenic / Q000379:methods; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006151:Guanosine / Q000031:analogs & derivatives / Q000378:metabolism; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000235:genetics; D009154:Mutation / Q000235:genetics*
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; C037626:3'-O-methylguanosine; D006151:Guanosine; D005947:Glucose