Abstract:

Fatty acid is the most important energy source of myocardium. Fatty acid oxidation disorders（FAODs） can give rise to insufficiency of mitochondrial energy production and accumulation of metabolic intermediates in cardiomyocytes，such as lipid and long-chain acyl carnitine，leading to myocardial lesions. FAODs include carnitine-dependent fatty acid transport disorders and mitochondrial fatty acid beta-oxidation disorders，with any enzyme or transporter defect in fatty acid oxidation process resulting in this disease. Although FAODs are one of the rare causes of pediatric cardiomyopathy，some patients with FAODs are expected to have cardiomyopathy alleviated and quality of life improved by early correction of fatty acid metabolic disorders.

Key words: fatty acid oxidation disorders, cardiomyopathy

摘要：

脂肪酸是心肌最重要的能量来源， 脂肪酸氧化代谢病（FAOD）可导致线粒体能量生成不足， 同时可造成心肌细胞内脂质和长链酰基肉碱等中间代谢产物蓄积， 从而导致心肌病变。FAOD主要包括肉碱依赖的脂肪酸转运障碍和线粒体内的脂肪酸β-氧化异常， 缺陷可发生于脂肪酸氧化过程中的任何酶或转运蛋白。尽管FAOD是引起儿童心肌病的少见病因之一， 但部分FAOD通过早期纠正脂肪酸代谢紊乱后， 心肌病有望得到改善， 生存质量可显著提高。

关键词: 脂肪酸氧化代谢病, 心肌病