Carnitine deficiency is the result of the body’s inability to absorb this important amino acid. This can cause inadequate muscle metabolism, which can lead to the development of several other disorders. The condition is usually detected at an early age — if not at birth, then before a child reaches the age of seven. Carnitine is naturally produced in the human body by the kidneys and liver.
Some of the most common causes of carnitine deficiency include a poor diet — particularly due to fad diet plants — heredity; and loss of the amino acid due to diuresis, diarrhea, or hemodialysis. Severe liver disorder and increased needs for or difficulty metabolizing carnitine may also be causes. Use of the drug valproate has been reported to cause the deficiency as well.
There are three types of carnitine deficiency: primary, muscle, and secondary. Primary deficiency can be the cause of GI dysmotility, muscle weakness, anemia, and frequent infections. A muscle deficiency affects only the muscles and is the most likely of the three to affect young adults with no symptoms early in life. Secondary deficiency is the most common type to be brought on by dietary deficiencies, infant renal problems, and the inability to get proper nutrition from breast milk.
The symptoms of a carnitine deficiency vary, depending on what has caused the condition and the age of the individual. Some common signs are aching muscles, confusion, and fatigue. Conditions that may indicate a carnitine deficiency include a fatty liver, muscle necrosis, hypoglycemia, and cardiomyopathy.
There are multiple methods used to diagnose a carnitine deficiency. Usually the patient’s blood is tested first. Then, to be sure of the diagnosis, urine and tissues from the muscles and liver may be tested.
The specific measures taken to treat carnitine deficiency depend on the patient and how the condition has affected them. Patients with primary carnitine deficiency may only need to take L-carnitine to adequately raise levels of the amino acid. The other forms of the condition may be treated with a diet that is low-fat and high in carbohydrates and includes foods such as dairy products and meats that naturally contain carnitine. Consumption of plain cornstarch at bedtime, triglyceride and essential fatty acid supplementation, or a protein-restricted diet may be the appropriate course of action for other patients. Most individuals with the condition are also advised to avoid intense exercise or diets which require fasting.
