CPT2 Disease Symptoms and Causes
If you’re wondering how to treat CPT2 disease, you’ve come to the right place. In this article, we’ll cover the causes of this disorder and how to cure it, as well as the difference between CPT1 and CPT2. Read on to learn more. This disease can be fatal.
How do you treat CPT2 disease?
CPT2 deficiency is a genetic condition that affects the synthesis of an enzyme called carnitine palmitoyltransferase. All individuals have two copies of this gene, but a person with this disease is not able to make enough of it. This condition is autosomal recessive, meaning that it is passed down through the family. As a result, both boys and girls are equally likely to have the disorder.
The symptoms of CPT2 deficiency can be mild or severe. The most serious form of this condition can be life-threatening, and symptoms include sudden, unexplained infant death. Other symptoms can include muscle weakness, brownish urine, and pain after physical stress.
Can CPT2 be cured?
If you’ve ever wondered if CPT2 can be cured, you’re not alone. Many people are suffering from mild episodes and may wonder if they have the disease. They may have never been evaluated by a doctor, or they’ve been misdiagnosed with another disorder. If this sounds like you, there are a few steps you can take to seek treatment.
First, you should know the name of your condition. CPT2 is short for carnitine palmitoyltransferase 2. It is an enzyme that is involved in the metabolism of fatty acids. If you have this gene defect, you may have elevated levels of long-chain fatty acids (LCFAs) in your blood. Moreover, your free carnitine levels will be low.
What causes CPT2 disease?
There are several different forms of CPT2 deficiency. Myopathic type is the least severe, characterized by recurrent episodes of muscle pain and weakness. The disease is caused by the breakdown of muscle tissue, releasing myoglobin. This substance damages the kidneys and can result in life-threatening kidney failure. Myopathy may be triggered by a range of circumstances, including exercise, exposure to extreme temperatures, infections, or fasting.
When the CPT2 enzyme is missing or dysfunctional, the body is unable to use fat as an energy source. Instead, the body relies on glucose, a limited source of energy. When glucose is not available, the body attempts to use fat. However, this process is unsuccessful, resulting in low blood sugar levels and increased levels of harmful substances in the blood.
How common is CPT2?
CPT2 deficiency is an autosomal recessive disorder, meaning that a child inherits a non-working copy of the gene from each parent. This means that any child conceived from parents who are carriers has a 25% chance of developing the disorder as well. For this reason, genetic counseling is beneficial for those affected as well as their families. Testing siblings who have been affected by CPT2 deficiency is also recommended.
The gene encoding CPT II is located on chromosome 1p32. It is expressed in all tissues that require FAO. However, it is unknown if the CPT II enzyme has isoforms.
