Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food fasting. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction encephalopathy , a weakened and enlarged heart cardiomyopathy , confusion, vomiting, muscle weakness, and low blood sugar hypoglycemia. The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition.
Carnitine Deficiency - Nutritional Disorders - MSD Manual Professional Edition
Carnitine deficiency results from inadequate intake of or inability to metabolize the amino acid carnitine. It can cause a heterogeneous group of disorders. Muscle metabolism is impaired, causing myopathy, hypoglycemia, or cardiomyopathy. Infants typically present with hypoglycemic, hypoketotic encephalopathy. Most often, treatment consists of dietary L-carnitine. See also Overview of Undernutrition. The amino acid carnitine is required for the transport of long-chain fatty acyl coenzyme A CoA esters into myocyte mitochondria, where they are oxidized for energy.
This can cause muscle weakness. It can also cause heart or liver problems. Secondary carnitine deficiency can by caused by a number of health problems.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.