葡萄糖转运蛋白-1缺乏综合征:临床、遗传特点及治疗

作     者：Pascual J.M. D.C. De Vivo 郭俊 

作者机构：Department of Pediatri cs Columbia University Neurological Institute 710 West 168th Street New York NY 10032 United States Dr. 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2005年第1卷第5期

页      面：16-17页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：葡萄糖转运蛋白 遗传特点 血脑屏障 血糖浓度 痫性发作 小头畸形 生酮饮食 脑脊液糖 共济失调 乳酸盐 

摘      要：Impaired glucose transport across the blood brain barrier results in Glut 1 deficiency syndrome (Glut 1 DS, OMIM 606777), characterized by infantile se izures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypo glycorrhachia. We studied 16 new Glut 1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype phenotype co rrelation, and treatment. These patients were classified phenotypically into thr ee groups. The mean cerebrospinal fluid glucose concentration was 33.1 ± 4.9mg/ dl equal to 37% of the simultaneous blood glucose concentration. The mean cere brospinal fluid lactate concentration was 1.0 ± 0.3mM, which was less than the normal mean value of 1.63mM. The mean Vmax for the 3 O methyl D glucose uptake into erythrocytes was 996 fmol/106 red blood cells per second, significan tly less (54 ± 11% ; t test, p 0.05). We identified 16 rearrangements, includ ing seven missense, one nonsense, one insertion, and seven deletion mutations. F ourteen were novel mutations. There were no obvious correlations between phenoty pe, genotype, or biochemical measures. The ketogenic diet produced good seizure control.