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: Tags: Case Report Source Type: research