Gosset Carnitine O-palmitoyltransferase 1 Overview
Carnitine O-palmitoyltransferase 1 (CPT1) is a mitochondrial enzyme crucial for the metabolism of long-chain fatty acids. It catalyzes the transfer of an acyl group from long-chain fatty acyl-CoA to L-carnitine, forming acyl-carnitines such as palmitoylcarnitine. This reaction is essential for transporting fatty acids into mitochondria for β-oxidation and energy production. CPT1 exists in three main isoforms in humans: CPT1A (Liver), CPT1B (Muscle), and CPT1C (Brain). CPT1 activity is tightly regulated, inhibited by malonyl-CoA, which links it directly to control by pathways involved in fatty acid synthesis versus oxidation. Mutations or deficiencies in CPT1 lead to carnitine palmitoyltransferase I deficiency, a rare metabolic disorder characterized by hypoketotic hypoglycemia during fasting or illness.
Mechanism of Action
Catalyzes the transfer of an acyl group from long-chain fatty acyl-CoA to L-carnitine, facilitating transport of fatty acids into the mitochondria for beta-oxidation.
Biological Functions
Disease Associations
Safety Considerations
- Risk of hypoketotic hypoglycemia during fasting or illness
- Potential for life-threatening episodes if untreated in CPT1 deficiency