Carnitine Palmitoyltransferase I Deficiency
Carnitine Palmitoyltransferase I Deficiency is a rare genetic disorder that affects the body's ability to break down fats for energy. This condition is caused by a deficiency in the enzyme carnitine palmitoyltransferase I, which is essential for transporting long-chain fatty acids into the mitochondria, where they are oxidized for energy. Individuals with this deficiency may experience symptoms such as muscle weakness, fatigue, and hypoglycemia, especially during periods of fasting or intense exercise.
Diagnosis typically involves blood tests to measure levels of carnitine and fatty acids. Management of the condition often includes dietary modifications, such as a high-carbohydrate and low-fat diet, along with supplementation of carnitine to help improve energy metabolism. Early diagnosis and intervention can significantly improve the quality of life for affected individuals.