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: Symptoms of low blood sugar (hypoglycemia) Temporary muscle pain Muscle breakdown Muscle weakness Muscle weakness (in the severe infantile hepatocardiomuscular form) How is carnitine palmitoyltransferase deficiency diagnosed? 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. They may also ask about your family’s medical history. The physical exam may include a neurological exam. Tests may also be done, including: Blood tests. These are done to check the levels of acylcarnitine in the blood. And they check for enzymes in the blood that can show liver disease. Urine test. This test looks for a protein called ketones. It also looks for myoglobin in the urine to check for muscle breakdown. Exercise tests. These help identify the type of metabolic problem. Genetic test. This kind of test can confirm CPT deficiency. Heart tests. Tests such as echo cardiography can show if the heart is affected. How is carnitine palmitoyltransferase deficiency treated? 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 stay away from 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. What are possible complications of carnitine palmitoyltransferase deficiency? 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. What can I do to prevent carnitine palmitoyltransferase 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 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. When should I call my healthcare provider? Call your healthcare provider right away if you think you are having an episode of symptoms. This includes weakness or muscle pain following exercise. Key points about carnitine palmitoyltransferase deficiency CPT deficiency is a condition that causes muscle weakness and other symptoms. It happens because of a problem with one of two enzymes, CPT1 or CPT2. The condition is caused by an abnormal gene. Symptoms can include muscle pain and weakness. If the condition runs in your family, you may want to see a genetic specialist before you have a baby. A low-fat diet is the main treatment for CPT deficiency. You may need to avoid activities that can trigger symptoms, like skipping meals or exercising a lot
Hi thanks for lecture. I think Romberg test is not normal in cerebellar ataxia. actually it is positive even with eyes open. the sensory ataxia only causes Romberg test to be positive when patient eyes are closed
No worries, thanks for the comment. Yes, things are always more complex in reality, but I have presented this in a way to keep it simple and useful for exam purposes. Yes, the patient may fall (Romberg positive) even with eyes open if the cerebellar ataxia is bad enough, but this is very rare. In general, Romberg positive indicates a sensory ataxia and this is how it should be conceptualized. Matt.
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:
Symptoms of low blood sugar (hypoglycemia)
Temporary muscle pain
Muscle breakdown
Muscle weakness
Muscle weakness (in the severe infantile hepatocardiomuscular form)
How is carnitine palmitoyltransferase deficiency diagnosed?
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. They may also ask about your family’s medical history. The physical exam may include a neurological exam. Tests may also be done, including:
Blood tests. These are done to check the levels of acylcarnitine in the blood. And they check for enzymes in the blood that can show liver disease.
Urine test. This test looks for a protein called ketones. It also looks for myoglobin in the urine to check for muscle breakdown.
Exercise tests. These help identify the type of metabolic problem.
Genetic test. This kind of test can confirm CPT deficiency.
Heart tests. Tests such as echo cardiography can show if the heart is affected.
How is carnitine palmitoyltransferase deficiency treated?
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 stay away from 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.
What are possible complications of carnitine palmitoyltransferase deficiency?
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.
What can I do to prevent carnitine palmitoyltransferase 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 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.
When should I call my healthcare provider?
Call your healthcare provider right away if you think you are having an episode of symptoms. This includes weakness or muscle pain following exercise.
Key points about carnitine palmitoyltransferase deficiency
CPT deficiency is a condition that causes muscle weakness and other symptoms. It happens because of a problem with one of two enzymes, CPT1 or CPT2.
The condition is caused by an abnormal gene.
Symptoms can include muscle pain and weakness.
If the condition runs in your family, you may want to see a genetic specialist before you have a baby.
A low-fat diet is the main treatment for CPT deficiency.
You may need to avoid activities that can trigger symptoms, like skipping meals or exercising a lot
Hi thanks for lecture. I think Romberg test is not normal in cerebellar ataxia. actually it is positive even with eyes open. the sensory ataxia only causes Romberg test to be positive when patient eyes are closed
No worries, thanks for the comment. Yes, things are always more complex in reality, but I have presented this in a way to keep it simple and useful for exam purposes. Yes, the patient may fall (Romberg positive) even with eyes open if the cerebellar ataxia is bad enough, but this is very rare. In general, Romberg positive indicates a sensory ataxia and this is how it should be conceptualized. Matt.
Thanks