遗传代谢病的饮食治疗  

Dietary therapy for inherited metabolic diseases

作　　者：丰利芳 巩纯秀[2] 韩连书[3] Feng Lifang;Gong Chunxiu;Han Lianshu(Department of Endocrinology and Genetic Metabolism,Wuhan Children′s Hospital,Tongji Medical College,Huazhong University of Science&Technology,Wuhan,430016,China;Department of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Shanghai Xinhua Children′s Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院遗传代谢内分泌科,武汉430016 [2]国家儿童医学中心,首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045 [3]上海交通大学医学院附属新华医院,上海市儿科医学研究所,上海新华医院小儿内分泌遗传代谢科,上海200092

出　　处：《中华实用儿科临床杂志》2022年第11期870-874,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家重点研发计划(2016YFC0901505)。

摘　　要：随着质谱技术、基因检测等技术的发展以及新生儿遗传代谢病筛查的推广, 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。饮食治疗是许多遗传代谢病的主要治疗方法之一, 其出发点为限制代谢障碍底物的摄入, 补充合成不足的产物或替代能源以绕过缺陷途径, 目的为维持正常的生长发育。随着越来越多的特殊医学配方营养食品投入生产和使用, 饮食治疗的可及性及依从性提高, 越来越多患者的临床症状得到控制, 生活质量得以改善。现主要针对相对常见的遗传代谢病的饮食治疗进行阐述。The developments of mass spectrometry and gene detection technology and the introduction of newborn screening have led to an expanding population of patients with inherited metabolic diseases.Therapies of inherited metabolic diseases have attracted much attention.The basic principles of management in these diseases are to limite the consumption of nutrients that produce toxic products,supplement deficient substances,and increase excretion of toxic metabolites.Dietary therapy is one of the major treatments for many inherited metabolic disorders,with the starting point of limiting the intake of substrates for metabolic disorders and supplementing products of insufficient synthesis or alternative energy sources to bypass the defective pathway in order to maintain normal growth and development.With more and more special medical formula nutritional foods being put into production and use,dietary therapy become accessible and compliant.With the effective dietary therapy,many patients get clinical symptom controlled,and their quality of life has been improved.This article mainly elaborates the common inherited metabolic diseases dietary therapy.

关 键 词：遗传代谢病 饮食治疗 氨基酸及肽类代谢障碍 脂类及脂蛋白代谢障碍 脂肪酸及酮体代谢障碍 碳水化合物代谢障碍 

分 类 号：R722.1[医药卫生—儿科] R459.3[医药卫生—临床医学]