Effects of the ketogenic diet deficiency in the glucose transporter 1 syndrome
Effects of the ketogenic diet deficiency in the glucose transporter 1 syndrome
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DOI：
10.1016/j.plefa.2003.07.004
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发表时间：
2004-03-01
影响因子：
3
通讯作者：
Voit, T
中科院分区：
文献类型：
--
作者：
Klepper, J;Diefenbach, S;Voit, T
生酮饮食(KD)是为治疗难治性儿童癫痫而建立的，已成为GLUT1缺乏综合征的主要治疗方法(OMIM 606777)。这种葡萄糖转运到大脑的缺陷导致低血糖，导致癫痫，发育迟缓，以及儿童早期复杂的运动障碍。由高脂肪、低碳水化合物饮食提供的酮类是大脑的替代燃料。检测了5例GLUT1缺陷患者KD治疗前后血和脑脊液中葡萄糖、乳酸、血脂和酮类的变化。在非酮症和酮症状态下均可检测到低血糖。在酮症患者中，脑脊液中的乳酸浓度适度升高。与β-羟基丁酸酯相比，乙酰乙酸酯的脑脊液/血液比率更高。游离脂肪酸并没有大量进入大脑。KD上18例GLUT1缺陷患者的血液必需脂肪酸浓度在所有年龄组都是足够的。并举例讨论了KD在GLUT1虚证中的作用，特别是对血脂病程的影响。在这种综合征中，KD有效地恢复了大脑的能量代谢。酮症不影响GLUT1介导的葡萄糖转运受损进入大脑：低血糖，疾病的生化标志，可以在KD患者中发现GLUT1缺陷的患者。结合以往有关酮病的资料，讨论了酮病对本病患者血液和脑脊液中葡萄糖、乳酸、酮类和脂肪酸浓度的影响。(C)2003爱思唯尔有限公司。保留所有权利。
The ketogenic diet (KD), established to treat intractable childhood epilepsy, has emerged as the principal treatment of GLUT1 deficiency syndrome (OMIM 606777). This defect of glucose transport into the brain results in hypoglycorrhachia causing epilepsy, developmental delay, and a complex motor disorder in early childhood. Ketones provided by a high-fat, low-carbohydrate diet serve as an alternative fuel to the brain. Glucose, lactate, lipids, and ketones in blood and cerebrospinal fluid were investigated in five GLUT1-deficient patients before and on the KD. Hypoglycorrhachia was detected in the non-ketotic and ketotic state. In ketosis, lactate concentrations in the cerebrospinal fluid increased moderately. The CSF/blood ratio for acetoacetate was higher compared to beta-hydroxybutyrate. Free fatty acids did not enter the brain in significant amounts. Blood concentrations of essential fatty acids determined in 18 GLUT1-deficient patients on the KD were sufficient in all age groups. The effects of the KD in GLUT1 deficiency syndrome, particularly the course of blood lipids, are discussed in an illustrative case. In this syndrome, the KD effectively restores brain energy metabolism. Ketosis does not influence impaired GLUT1-mediated glucose transport into brain: hypoglycorrhachia, the biochemical hallmark of the disease, can be identified in GLUT1-deficient patients on a KD. The effects of ketosis on the concentrations of glucose, lactate, ketones, and fatty acids in blood and cerebrospinal fluid in this entity are discussed in view of previous data on ketosis in man. (C) 2003 Elsevier Ltd. All rights reserved.