CPT1A : carnitine palmitoyltransferase 1A

Description

The CPT1A gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A. This enzyme plays a crucial role in the breakdown of fatty acids, a process known as beta-oxidation. Beta-oxidation occurs within the mitochondria, the powerhouses of cells, and it generates energy for the body. Specifically, CPT1A helps transport long-chain fatty acids from the cytoplasm into the mitochondria, where they can be broken down for energy production. This gene is particularly important for the liver, heart, and skeletal muscles, tissues that rely heavily on fatty acid metabolism.

Associated Diseases

• Carnitine palmitoyltransferase 1A deficiency (CPT1A deficiency)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)

Did you know?

CPT1A deficiency is a rare genetic disorder, but it can have a significant impact on an individual‘s health. Individuals with this disorder may experience muscle weakness, low blood sugar, and liver problems.