Carnitine is a natural substance that the body uses to process fats and produce energy. Carnitine deficiency is when not enough of the nutrient carnitine is available to cells in the body. This can cause muscle weakness and heart or liver problems.
We get carnitine through some of the foods we eat. It plays an important role in getting fatty acids into cells to use for energy. Carnitine is especially important for certain cells, such as muscle cells. With carnitine deficiency, cells that rely on fatty acids for energy may start to work poorly. Carnitine deficiency can happen in men, women, and children of all ages and all ethnicities.
There are 2 types of carnitine deficiency:
The primary condition is caused by an abnormal gene.
A variety of medical conditions can cause the secondary condition. These decrease the amount of carnitine in the body. They may do this by increasing the amount sent out in urine. Or, they may cause the body to absorb less from food. The medical problems that can cause this include:
The primary condition is passed down from parents to children. A child needs to get an abnormal copy of the gene from both parents.
You may have a risk of the secondary condition if you have liver or kidney disease, or other medical conditions.
The primary condition leads to more severe symptoms than the secondary condition. Children with primary carnitine deficiency tend to show symptoms within the first few years of life. In some cases, however, symptoms may begin as an adult.
Symptoms can happen a bit differently in each person. You may have no symptoms, or your symptoms may be mild to severe. Some symptoms may appear with skipping meals, a lot of exercise, or illness. Symptoms can include:
The symptoms of carnitine deficiency can be like other health conditions. Make sure to see your healthcare provider for a diagnosis.
The condition may be diagnosed by a neurologist or geneticist. An infant may be diagnosed through standard newborn screening tests.
The process to diagnose carnitine deficiency starts with a medical history and a physical exam. Your healthcare provider will ask about your symptoms and past medical conditions. He or she may also ask about your family’s medical history. The physical exam may include a neurological exam. Tests may also be done, such as:
The main treatment for carnitine deficiency is to take L-carnitine supplements. This is the usable form of carnitine. It is available in pill form. L-carnitine increases the amount of carnitine in the blood and inside cells. This can help prevent many of the symptoms of the disease.
If you have the primary condition, you will probably need to take L-carnitine for the rest of your life. If you have the secondary condition, you may only need to take carnitine for a limited time. You may need repeated blood tests to check your carnitine levels.
If you have heart and liver problems, these may need additional treatment.
It’s also important to avoid things that may trigger symptoms. These include skipping meals, exposure to cold, and a lot of exercise.
Heart weakness is a serious possible complication. A weakened heart may not be able to pump blood as well. This can lead to symptoms such as swelling and shortness of breath. Untreated heart weakness may lead to death early in life. Fortunately, heart problems respond very well to treatment with L-carnitine. Your healthcare provider may want to continue to monitor your heart for signs of weakness. Heart problems may be the first symptom of carnitine deficiency.
Liver problems are another serious possible complication. They often affect infants in the first few years of life. The liver may enlarge and not function as well as it should. This may cause problems such as poor feeding and irritability in the baby. Liver problems can lead to episodes of hypoglycemia. Infections are often the trigger for these episodes. Severe hypoglycemia can lead to coma and death if not treated right away with a sugar called dextrose.
Liver problems may or may not respond well to treatment with L-carnitine. These liver problems may also be the first symptoms of a carnitine deficiency.
If the condition runs in your family, you may want to see a genetic specialist before you have a baby. Genetic testing can be done to find out your risk of passing the disease to your child.
If you do have the abnormal gene for the condition, you have options. If you use in vitro fertilization, the embryos can be tested for the disease. Amniocentesis can also be used to test for the condition in early pregnancy.
Tips to help you get the most from a visit to your healthcare provider:
© 2015 The University of Chicago Medical Center. All rights reserved.
The University of Chicago Medicine
5841 S. Maryland Avenue
Chicago, IL 60637 | 773-702-1000
Appointments: Call UCM Connect at 1-888-824-0200