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Carnitine palmitoyl transferase (CPT) deficiency is a very rare condition that causes muscle weakness and other symptoms. It happens because of a problem with 1 of 2 enzymes, CPT1 or CPT2. Enzymes are substances in the body that help cause chemical reactions.
CPT enzymes help get fatty acids into cells to use for energy. They are especially important for certain cells, such as muscle cells. With CPT deficiency, cells that rely on fatty acids for energy may start to work poorly. This leads to the symptoms such as muscle weakness and heart or liver problems. CPT deficiency can happen in men, women, and children of all ages.
There are 2 main types of CPT deficiency:
There are 3 subtypes of CPT2 deficiency:
Infants with the lethal infantile form of CPT2 usually die within the first few months of life. Infants with the severe infantile form often do somewhat better, but also suffer from severe multisystemic disease. The myopathic form is milder.
CPT deficiency is caused by an abnormal gene. A problem with the gene might cause the CPT1 or CPT2 enzymes to be missing or not work normally.
You or your child may be at risk for CPT deficiency if it runs in your family. In most cases, a person needs to inherit an abnormal gene from both parents.
Children with CPT deficiency tend to show symptoms within the first few years of life. In some cases, however, symptoms may begin as an adult.
CPT deficiency can cause:
Symptoms can happen a bit differently in each person. Symptoms may be mild to severe. Between episodes, people with CPT1 or CPT2 deficiency may not have any symptoms.
The myopathic form of CPT2 deficiency causes milder symptoms. It does not cause heart or liver problems. Symptoms may begin any time up to age 60. Symptoms can appear with skipping meals, a lot of exercise, or illness. Symptoms may include:
In the lethal neonatal form, symptoms usually begin within a few days after birth. In the severe infantile hepatocardiomuscular form, symptoms begin in the first year of life. These forms can also cause:
The condition may be diagnosed by a neurologist or geneticist. An infant may be diagnosed through standard newborn screening tests.
The process to diagnose CPT 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:
A change in diet is the main treatment for CPT deficiency. This diet must avoid relying on fats for energy. It should provide a high amount of carbohydrates. It should contain a low amount of fats and protein. It’s also important to eat often. This can prevent low blood sugar. It can also prevent the body using fats for energy. And you should avoid things that may trigger symptoms. These may include skipping meals, exposure to cold, stress, and a lot of exercise.
The medicine bezafibrate may help to reduce muscle pain and weakness for people with the myopathic form of CPT2.
The adult myopathic form of CPT2 deficiency can sometimes cause kidney failure. This happens when muscle breaks down during exercise. This creates a chemical that can damage the kidneys. You might need extra IV fluids or dialysis to prevent or treat this.
Heart weakness (cardiomyopathy) is a serious possible complication of some forms of CPT deficiency. 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.
Liver problems are another serious possible complication. Liver problems can lead to episodes of low blood sugar (hypoglycemia), often triggered by an infection. Untreated hypoglycemia can cause brain damage, leading to coma and death.
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 choices. 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.
Call your healthcare provider right away if you think you are having an episode of symptoms. This includes weakness or muscle pain following exercise.
Tips to help you get the most from a visit to your healthcare provider:
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