Study of the inborn errors of mitochondrial fatty acid ?-oridation deficiency / 北京大学学报(医学版)
Journal of Peking University(Health Sciences)
;
(6)2004.
Article
in Chinese
| WPRIM
| ID: wpr-558633
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Peking University(Health Sciences)
Year:
2004
Type:
Article
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