Longo N, Elsas L J
Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Adv Pediatr. 1998;45:293-313.
Concentrative and facilitative glucose transporters are responsible for the movement of glucose across the plasma membrane of human cells. Defects in concentrative glucose transporters cause renal glycosuria and glucose-galactose malabsorption. Alterations in facilitative glucose transporters explain the newly discovered syndrome of low CNS glucose in the presence of normal blood sugar, causing seizures and developmental delay. Defects in other facilitate glucose transporters also help explain Fanconi-Bickel syndrome, glycogen storage disease type, Id, and non-insulin-dependent diabetes mellitus.
同向转运型和易化型葡萄糖转运蛋白负责葡萄糖跨人类细胞膜的转运。同向转运型葡萄糖转运蛋白缺陷会导致肾性糖尿和葡萄糖 - 半乳糖吸收不良。易化型葡萄糖转运蛋白的改变解释了在血糖正常情况下新发现的中枢神经系统葡萄糖水平低的综合征，该综合征会导致癫痫发作和发育迟缓。其他易化型葡萄糖转运蛋白的缺陷也有助于解释范科尼 - 比克综合征、Ⅰ型糖原贮积病和非胰岛素依赖型糖尿病。
