遗传性线粒体脂肪酸β-氧化途径代谢缺陷研究进展

Study of the inborn errors of mitochondrial fatty acid β-oridation deficiency

近年来，国外学者对脂肪酸氧化代谢缺陷研究较为深入，已从DNA、RNA及蛋白质多个水平进行研究，而且，多种脂肪酸氧化代谢缺陷已列入产前或新生儿筛查项目。而目前国内对此研究甚少。因此，在国内开展遗传性脂肪酸氧化代谢缺陷方面的研究具有重要意义。

Mitochondrial fatty acids 13-oxidation major source of energy for heart, liver and skeletal is a repetitive process of four steps which provides the muscle. Several enzymes are involved in this spiral cycle. The medium-chain acyl-CoA dehydrogenase （MCAD）, the short-chain acyl-CoA dehydrogenase （SCAD）, the long-chain 3-hydroxy acyl-CoA dehydrogenase （LCHAD） and the carnitine-palmitoyl-CoA transferase Ⅱ （CPT Ⅱ） deficiency have been recognized as the most common inborn errors of metabolism and frequently reported in their association with sudden infant death （SID）. The prevalent mutations in these genes need further investigation in different populations.