How do you treat CPT2 disease?
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat and high-carbohydrate diet combined with exercise restriction in order to avoid muscle pain and rhabdomyolysis.
What is cp2 disease?
Listen. Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).
How is CPT2 deficiency diagnosed?
To differentiate the two, the specific diagnosis must be confirmed by genetic testing for CPT2 mutations or by measurement of CPT2 activity in blood or skin cells. For mild CPT2 deficiency, there is a common CPT2 mutation that can be used as a mutation analysis starting point.
How common is CPT2 disease?
CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases.
What do people with CPT2 eat?
Individuals with the mild myopathic form of CPT II deficiency should avoid strenuous exercise, long periods without eating, and extreme temperatures. They are recommended to eat a modified diet that consists of frequent, high-carbohydrate, low-fat meals. Some doctors also suggest using carnitine supplements.
What is the diet for CPT2 disease?
Diet Sometimes a low fat, high carbohydrate diet is recommended. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for people needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy foods).
What are the symptoms of carnitine palmitoyltransferase deficiency?
CPT deficiency can cause: Symptoms of low blood sugar (hypoglycemia) Liver problems, such as an enlarged liver. Nervous system damage, from liver problems….Symptoms may include:
- Symptoms of low blood sugar (hypoglycemia)
- Temporary muscle pain.
- Muscle breakdown.
- Muscle weakness.
What should I eat with CPT2?
What is the diet for cpt2 disease?
What foods are high in lipids?
Food Sources of Lipids Commonly consumed oils are canola, corn, olive, peanut, safflower, soy, and sunflower oil. Foods rich in oils include salad dressing, olives, avocados, peanut butter, nuts, seeds, and some fish. Fats are found in animal meat, dairy products, and cocoa butter.
What causes CPT1?
CPT1 happens when an enzyme called “carnitine palmitoyl transferase” is missing or not working. This enzyme breaks down certain fats from the food we eat into energy. It also breaks down fat already stored in the body. What Symptoms or Problems Occur with CPT1?
What does carnitine do to your body?
Carnitine plays a critical role in energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized (“burned”) to produce energy. It also transports the toxic compounds generated out of this cellular organelle to prevent their accumulation.