中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (10): 758-761.DOI: 10.19538/j.ek2023100609

• 专题笔谈 • 上一篇    下一篇

牛磺酸在遗传代谢病治疗中的应用

  

  1. 1.厦门大学附属妇女儿童医院厦门市妇幼保健院  a 科创中心；b 儿内科，厦门  福建  361003；2.北京大学第一医院儿科，北京  100034
  • 出版日期:2023-10-06 发布日期:2023-09-27
  • 通讯作者: 杨艳玲，电子信箱：organic.acid@126.com
  • 基金资助:
    国家重点研发计划（2021YFC2700903）

Use of taurine in the treatment of inherited metabolic disorders 

  1. *Scientific Research and Innovation Center，Women and Children’s Hospital，Xiamen University，Xiamen  361003，China
  • Online:2023-10-06 Published:2023-09-27

摘要： 牛磺酸是一种重要的营养素，为条件必需氨基酸，人体需要大量牛磺酸才能维持器官功能。牛磺酸部分在体内合成，大部分靠从食物摄取。牛磺酸有多种生理功能，可以降低血液胆固醇水平，改善胰岛素抵抗，降血压，改善线粒体功能，促进儿童脑、肝、心等器官发育。在线粒体病等遗传代谢病、代谢综合征和神经发育障碍等疾病治疗中，国内外应用牛磺酸进行了体外及体内治疗研究，证实了牛磺酸的重要价值。

关键词: 牛磺酸, 必需氨基酸, 遗传代谢病, 线粒体病

Abstract: Taurine is an important nutrient. It is a conditio-nally essential amino acid. The human body needs large amounts of taurine to maintain organ function. While some taurine is synthesized internally，the majority is obtained through dietary intake. Taurine serves various physiological functions，including lowering blood cholesterol levels，improving insulin resistance，reducing blood pressure，enhancing mitochondrial function，andpromoting development of organs，especially brain，liver，and heart. Taurine has been studied both in vitro and in vivo for its therapeutic potential in the treatment of inherited metabolic disorders such as mitochondrial diseases，metabolic syndrome，and neurodevelopmental disorders， which has confirmed the significant value of taurine in these treatments.

Key words: taurine, essential amino acid, inherited metabolic disorders, mitochondrial diseases