Department of Pediatrics, Peking University First Hospital, Beijing, China.
Pediatr Neurol. 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010.
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.
葡萄糖转运蛋白 1 缺乏综合征的特征为婴儿期起病的癫痫发作、发育迟缓、运动障碍和获得性小头畸形。表型包括间歇性共济失调、舞蹈手足徐动症、肌张力障碍和交替性偏瘫伴或不伴癫痫。肌张力障碍涉及葡萄糖转运蛋白 1 缺乏综合征的等位基因变异。3 名中国患者表现为阵发性行为障碍、无力、共济失调（尤其是禁食后）和运动不耐受。脑电图检查结果与临床表现不相关。头颅磁共振成像结果正常或轻度脱髓鞘。所有患者均存在低颅糖血症。脑脊液葡萄糖浓度为 1.63-2.45mmol/L。患者 1 的红细胞 3-O-甲基-D-葡萄糖摄取降低至 58%。发现 3 个 SLC2A1 致病突变（761delA、P383H 和 R400C）。没有患者能耐受生酮饮食。2 名患者对少食多餐有反应。脑脊液评估是进行诊断性检查，有助于早期治疗葡萄糖转运蛋白 1 缺乏综合征。早期诊断和治疗可改善预后。
