Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
Carnitine palmitoyl transferase II (CPT2) deficiency is a fatty acid oxidation deficiency (FAD) caused by lack of CPT2, which is used in fatty acid beta oxidation. Fatty acids provide energy for cells and participate in a series of biochemical reactions through beta oxidation. The fatty acid beta oxidation process includes a series of enzymes, and any defects in these enzymes can lead to fatty acid oxidation metabolic disorders. Long chain fatty acids are a major constituent of the fatty acids. They are normally transported into the mitochondrial matrix for beta oxidation by a system that relies on carnitine [1].
Source: Forensic Science International - Category: Forensic Medicine Authors: Si-Hao Du, Fu Zhang, Yan-Geng Yu, Chuan-Xiang Chen, Hui-Jun Wang, Dong-Ri Li Tags: Case Report Source Type: research
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