摘要
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.
出处
《北京大学学报(医学版)》
CAS
CSCD
北大核心
2006年第2期214-217,共4页
Journal of Peking University:Health Sciences
基金
国家自然科学基金(30240038)
首都医学科学发展基金(2002-3031)资助~~