CPT1A deficiency
CPT1A deficiency is a rare genetic disorder that affects the body's ability to break down certain fats. It is caused by mutations in the CPT1A gene, which is essential for transporting long-chain fatty acids into the mitochondria, where they are converted into energy. Individuals with this condition may experience symptoms such as low blood sugar, muscle pain, and liver problems, especially during fasting or illness.
Diagnosis typically involves blood tests and genetic testing to confirm the presence of CPT1A mutations. Management focuses on dietary changes, including a low-fat diet and avoiding fasting, to prevent symptoms and complications. Regular monitoring by healthcare professionals is essential for affected individuals.