[Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency].
Mitochondrial fatty acids beta-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.
Zhu
Jin-ming
JM
Department of Gynecology and Obstetrics, Peking University Third Hospital, Beijing 100083, China.
Yang
Zi
Z
D044944:Acyl-CoA Dehydrogenases / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism*; D010084:Oxidation-Reduction
D005227:Fatty Acids; D044944:Acyl-CoA Dehydrogenases