Allelic variations of glut-1 deficiency syndrome: the chinese experience.
Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood with or without epilepsy. Dystonias involve allelic variants of glucose transporter type 1 deficiency syndrome. Three Chinese patients presented with paroxysmal behavioral disturbance, weakness, ataxia (especially after fasting), and exercise intolerance. Electroencephalogram findings did not correlate with clinical manifestations. Cranial magnetic resonance imaging produced normal results or mild hypomyelination. Hypoglycorrhachia was evident in all cases. Cerebrospinal fluid glucose ranged from 1.63-2.45 mmol/L. Erythrocyte 3-O-methyl-d-glucose uptake was decreased to 58% in patient 1. Three SLC2A1 disease-causing mutations (761delA, P383H, and R400C) were observed. No patient tolerated ketogenic diets. Two patients responded to frequent meals with snacks. Cerebrospinal fluid evaluation constitutes the diagnostic testing permitting early treatment of glucose transporter type 1 deficiency syndrome. Early diagnosis and treatment improve prognoses.
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Yanyan
Y
Liu
Xinhua
X
Bao
Dong
D
Wang
Na
N
Fu
Xiaoying
X
Zhang
Guangna
G
Cao
Fuying
F
Song
Shuang
S
Wang
Yuehua
Y
Zhang
Jiong
J
Qin
Hong
H
Yang
Kristin
K
Engelstad
Darryl C
DC
De Vivo
Xiru
X
Wu
D044466:Asian People; D002648:Child; D055423:Diet, Ketogenic / Q000379:methods*; D004569:Electroencephalography; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000134:cerebrospinal fluid / Q000178:diet therapy / Q000235:genetics*; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics
D051272:Glucose Transporter Type 1; D005947:Glucose