中国实用儿科杂志

中国实用儿科杂志

• 专题笔谈 • 上一篇    下一篇

脂肪酸氧化代谢病新生儿筛查

  

  1. 浙江大学医学院附属儿童医院遗传与代谢科， 浙江  杭州  310003
  • 出版日期:2019-01-06 发布日期:2019-03-08

Newborn screening for fatty acid oxidation disorders

  1. Department of Genetics and Metabolism，the Children’s Hospital，Zhejiang University School of Medicine， Hangzhou  310003， China
  • Online:2019-01-06 Published:2019-03-08

摘要：

脂肪酸氧化代谢病（FAOD）是脂肪酸进入线粒体或脂肪酸β氧化所需酶的功能障碍造成的一组常染色体隐性遗传疾病， 主要包括肉碱转运障碍与脂肪酸β氧化障碍两大类。临床表现无特异性， 累及包括肝脏、 心肌、 骨骼肌、 脑和肾脏等多器官，多数新生儿筛查确诊的FAOD患儿通过早期干预管理， 无临床症状或症状轻微， 但饥饿、 运动等应激条件下易急性发病甚至猝死， 长期随访与管理可有效减低FAOD致死、 致残率。

关键词: 脂肪酸氧化代谢病, 肉碱转运障碍, 脂肪酸&beta, 氧化障碍

Abstract:

Fatty acid oxidation disorders（FAOD） are a group of recessive hereditary diseases caused by the dysfunction of enzymes required for fatty acids to enter mitochondria or fatty acid beta-oxidation，including carnitine transport disorders and fatty acid beta-oxidation disorders. Clinical symptoms are non-specific，involving multiple organs，such as liver，myocardium，skeletal muscle，brain and kidney. Most FAOD patients diagnosed by newborn screening have no clinical symptoms or mild symptoms through early intervention management，but they are prone to acute onset or even sudden death under stress conditions such as hunger and exercise. Long-term follow-up and management can effectively reduce the mortality and morbidity rate of FAOD.

Key words: fatty acid oxidation disorders, primary carnitine deficiency, fatty acid beta oxidation disorders