Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome
Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome
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DOI：
10.1002/ana.410440225
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发表时间：
1998-08-01
影响因子：
11.2
通讯作者：
De Vivo, DC
中科院分区：
文献类型：
--
作者：
Klepper, J;Vera, JC;De Vivo, DC
葡萄糖转运蛋白综合征（GTPS）是由葡萄糖通过葡萄糖转运蛋白GLUT1穿过血脑屏障的转运缺陷引起的，导致低糖血症、婴儿癫痫发作和发育迟缓。最近的研究表明GLUT 1是一种多功能转运蛋白。我们研究了2例GTPS患者红细胞中氧化型维生素C（脱氢抗坏血酸）通过GLUT 1的转运。在这2例患者中，氧化型维生素C的摄取是母亲值的61%。我们的研究结果与最近的观察结果一致，即维生素C是通过GLUT 1以氧化形式运输的。我们推测，受损的运输这种基板，也许其他基板在GTPS可能有助于这种情况下的病理生理。
The glucose transporter protein syndrome (GTPS) is caused by defective transport of glucose across the blood-brain barrier via the glucose transporter GLUT1, resulting in hypoglycorrhachia, infantile seizures, and developmental delay. Recent reports indicated that GLUT1 is a multifunctional transporter. We investigated the transport of vitamin C in its oxidized form (dehydroascorbic acid) via GLUT1 into erythrocytes of 2 patients with GTPS, In both patients, uptake of oxidized vitamin C was 61% of the mothers' values. Our findings are consistent with recent observations that vitamin C is transported in its oxidized form via GLUT1. We speculate that impaired transport of this substrate and perhaps other substrates in GTPS might contribute to the pathophysiology of this condition.