Primary Carnitine Deficiency

Primary Carnitine Deficiency is a rare metabolic disorder caused by impaired carnitine transport, which limits the body’s ability to use long-chain fatty acids for energy. It can lead to hypoketotic hypoglycemia, muscle weakness, cardiomyopathy, and fatigue, with symptoms ranging from mild to life-threatening. Early diagnosis and treatment with carnitine supplementation can significantly improve outcomes.