Bertoli Simona, Trentani Claudia, Ferraris Cinzia, De Giorgis Valentina, Veggiotti Pierangelo, Tagliabue Anna
International Centre for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.
Human Nutrition and Eating Disorder Research Center, Department of Public Health, Experimental and Forensic Medicine University of Pavia, Pavia, Italy.
Nutrition. 2014 Jun;30(6):726-8. doi: 10.1016/j.nut.2014.01.005. Epub 2014 Jan 29.
The only known treatment of glucose transporter 1 deficiency syndrome (GLUT-1 DS) is a ketogenic diet (KD), which provides the brain with an alternative fuel. Studies in children with intractable epilepsy have shown that a prolonged KD can induce a progressive loss of bone mineral content associated with poor bone health status, probably as a consequence of a chronic acidic environment. The aim of this study is to determine the long-term effects of a KD on body composition and bone mineral status of patients with GLUT-1 DS, is currently unknown.
In this case series, we report the changes in body composition and bone mineral status observed in three adult patients with GLUT-1 DS who have been treated with a KD for more than 5 y.
A long-term KD did not produce appreciable changes in weight and body composition of adults with GLUT-1 DS. Moreover, we found no evidence of potential adverse effects of a KD on bone health. In summary, this case series contributes to a small but growing body of literature that investigated the potential long-term effects of a KD on bone health.
Our data suggest that maintaining a KD for more than 5 y does not pose any major negative effects on body composition, bone mineral content, and bone mineral density in adults with GLUT-1 DS, a finding that is at variance with previous reports focusing on children with intractable epilepsy. Further studies with larger sizes are needed to confirm and expand our findings.
葡萄糖转运蛋白1缺乏综合征（GLUT-1 DS）唯一已知的治疗方法是生酮饮食（KD），它为大脑提供了一种替代燃料。对难治性癫痫患儿的研究表明，长期采用生酮饮食会导致骨矿物质含量逐渐流失，这与骨骼健康状况不佳有关，可能是慢性酸性环境所致。目前尚不清楚本研究的目的是确定生酮饮食对GLUT-1 DS患者身体成分和骨矿物质状态的长期影响。
在这个病例系列中，我们报告了3例接受生酮饮食治疗超过5年的成年GLUT-1 DS患者身体成分和骨矿物质状态的变化。
长期生酮饮食对成年GLUT-1 DS患者的体重和身体成分没有产生明显变化。此外，我们没有发现生酮饮食对骨骼健康有潜在不良影响的证据。总之，这个病例系列为一小部分但不断增加的研究文献做出了贡献，这些文献探讨了生酮饮食对骨骼健康的潜在长期影响。
我们的数据表明，对于成年GLUT-1 DS患者，维持生酮饮食超过5年对身体成分、骨矿物质含量和骨矿物质密度没有任何重大负面影响，这一发现与之前针对难治性癫痫患儿的报道不同。需要进一步开展更大规模的研究来证实和扩展我们的发现。
