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  • Title: [Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency].
    Author: Zhu JM, Yang Z.
    Journal: Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Apr 18; 38(2):214-7. PubMed ID: 16617370.
    Abstract:
    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.
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