The cells of the body use carnitine to help them with their production of energy. One form of carnitine deficiency is a hereditary disease that can be fatal if not treated. Another form, which is not hereditary, can be the result of various conditions. Both forms can be treated, however.
The Basics
Carnitine is a coenzyme, a substance that proteins called enzymes need to make a reaction go faster. Enzymes must use carnitine to carry fatty acids across the membrane of the mitochondria, the structure inside of the cell where fatty acids will be changed into energy. Carnitine is made inside the kidneys and liver, but stored in the brain, skeletal muscle, sperm and heart.
Primary Systemic Carnitine Deficiency
Primary systemic carnitine deficiency is a hereditary disease in which people have abnormalities in the heart muscle, in the way that fat is stored within the muscles and liver, with some having an abnormally low level of glucose in the bloodstream. The heart abnormality is so severe, it is fatal if the carnitine deficiency is not treated and is why there can be a history of sudden death in children of families with this disease.
Secondary Carnitine Deficiency
Unlike primary systemic carnitine deficiency, secondary carnitine deficiency is not a hereditary disease in which someone is born with cells that cannot make enough carnitine. On the contrary, people with this form of carnitine deficiency can have it as a result of very poor nutrition, valproic acid medication for seizures or bipolar disorder, alcoholism, kidney failure or abnormalities, or liver problems. Secondary carnitine deficiency is more common than primary.
Treatment
Carnitine deficiency, whether primary or secondary, is usually treated with 12 mg of L-carnitine per pound of body weight every six hours. In addition, no one with this disorder should engage in strenuous exercise or fasting. Some might need to eat a low-fat, high-carbohydrate diet, while others might need supplements of fatty acids and triglycerides, or might need to eat uncooked cornstarch right before bedtime so they do not develop low blood glucose in the morning.
References
- "Adams and Victor's Principles of Neurology"; Dr. Allan Ropper et al; 2009
- "Current Diagnosis and Treatment: Pediatrics"; Dr. William Hay et al; 2011
- "Principles of Medical Biochemistry"; Gerhard Meisenberg et al; 1998
- Merck Manual for Healthcare Professionals: Carnitine Deficiency
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