生酮饮食干预葡萄糖转运体1缺陷综合征合并过敏一例

Ketogenic diet therapy for glucose transporter type 1 deficiency syndrome with food allergies:a case report

随着基因检测技术的发展,越来越多的遗传代谢病得以诊断。遗传代谢病治疗原则为限制代谢受阻底物的摄入,降低有害产物的蓄积,补充生成不足的产物。遗传代谢疾病多发生氨基酸及肽类代谢障碍、脂质和脂蛋白代谢障碍、脂肪酸和酮体代谢障碍、碳水化合物代谢障碍及其他代谢障碍。因此临床营养治疗该类疾病,需严格调整营养素比例。其中饮食治疗一直是主要营养治疗方法之一。该文报道1例葡萄糖转运体1缺陷综合征合并过敏的患儿进行全程营养管理,介绍生酮饮食治疗与疾病的相关性和如何具体实施饮食管理。以此探讨个体化饮食疗法对遗传代谢性疾病的患儿疾病改善预后、保障生活质量有重要意义。

The development of genetic testing technology has allowed the increasing diagnosis of inherited metabolic diseases.The principle of treatment of inherited metabolic diseases is to limit the intake of the substrates of a reaction that is impaired,reduce the accumulation of harmful metabolites,and replenish insufficient metabolites.Common inherited metabolic diseases include amino acid and peptide metabolism disorders,lipid and lipoprotein metabolism disorders,fatty acid and ketone metabolism disorders,carbohydrate metabolism disorders,and other metabolic disorders.Therefore,fine modification on the ratios of nutrients is required in the clinical nutrition treatment for such diseases.The commonly used approach is diet intervention.Here we report a case of a child with glucose transporter type 1 deficiency syndrome,who received the whole course nutritional management with dietary nutrient ratio modification,and discuss the role of ketogenic diet in this disease and its implementation.We aim to explore the significance of individualized dietary therapy in improving the prognosis and quality of life in children with inherited metabolic diseases.