Study of the inborn errors of mitochondrial fatty acid ?-oridation deficiency
- VernacularTitle:遗传性线粒体脂肪酸?-氧化途径代谢缺陷研究进展
- Author:
Jinming ZHU
;
Zi YANG
- Publication Type:Journal Article
- Keywords:
Fatty acids;
Oxidation-reduction;
Mitochondria;
Proteins;
Acyl coenzyme A
- From:
Journal of Peking University(Health Sciences)
2004;0(02):-
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial fatty acids ?-oxidation is a repetitive process of four steps which provides the major source of energy for heart, liver and skeletal 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.
