中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (10): 739-743.DOI: 10.19538/j.ek2022100606

• 专题笔谈 • 上一篇    下一篇

线粒体脂肪酸氧化代谢病的饮食与营养干预

  

  1. 1.厦门大学附属妇女儿童医院  厦门市妇幼保健院儿内科，福建  厦门  361003；2.厦门大学附属第一医院儿科，福建  厦门  361003
  • 出版日期:2022-10-06 发布日期:2022-11-11
  • 通讯作者: 陆妹，电子信箱：460873092@qq.com
  • 基金资助:
    厦门市医疗卫生指导性项目（3502Z20199078）

Dietary and nutritional intervention in mitochondrial fatty acid oxidation disorders

  1. *Department of Pediatrics，Women and Children’s Hospital，School of Medicine，Xiamen University，Xiamen  361003，China
  • Online:2022-10-06 Published:2022-11-11

摘要： 线粒体脂肪酸氧化代谢病是一组罕见的常染色体隐性遗传病，如果不能及时有效地干预，会造成脑、肝、心、骨骼肌等多系统损害，甚至猝死。维生素支持及饮食干预是线粒体脂肪酸氧化代谢病的有效方法。避免长时间禁食、低脂/高碳水化合物饮食、积极处理代谢危象是基本治疗原则。根据代谢缺陷及个体情况，选择不同的饮食策略与营养素支持，必要时补充左卡尼汀、中链甘油三酯和生玉米淀粉等。终身治疗，密切监测营养代谢及器官功能，以减少代谢危象、残障及死亡。

关键词: 遗传代谢病, 脂肪酸氧化代谢病, 饮食治疗, 左旋肉碱, 中链甘油三酯

Abstract: Mitochondrial fatty acid oxidation disorders（FAODs）are a series of rare autosomal recessive inherited metabolic disorders which will cause multi-system damage of brain，liver，heart，skeletal muscle and even sudden death without timely and effective intervention. Vitamins support and dietary intervention are effective for FAODs.Avoidance of long time fasting，low fat and high carbohydrate diets，and active management of metabolic crises are basic treatment principles.The individual dietary strategies and nutrient support should be considered according to metabolic defect and individual condition. Supplement ation with L-carnitine，medium-chain triglycerides，and raw corn starch are recommended if necessary. Lifelong treatment and intensive monitoring of nutritional metabolic condition and organ function are important to reduce the metabolic crisis，disability and death caused by FAODs.

Key words: inherited metabolic disorders, fatty acid oxidation disorders, dietary treatment, L-carnitine, medium-chain triglycerides