Learn About Carnitine Palmitoyltransferase 2 Deficiency

What is the definition of Carnitine Palmitoyltransferase 2 Deficiency?
Carnitine palmitoyltranferase 2 deficiency is a genetic enzyme disorder that prevents the body from using fat for energy. There are three types of carnitine palmitoyltranferase 2 deficiency: 1) a lethal neonatal form, 2) a severe infantile hepatocardiomuscular (liver, heart, and muscle) form, and 3) a myopathic (muscular disease) form.
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What are the symptoms of Carnitine Palmitoyltransferase 2 Deficiency?
Symptoms of carnitine palmitoyltranferase 2 deficiency depend on the type. Symptoms of carnitine palmitoyltranferase 2 deficiency include muscle weakness, muscle aches and pains, exercise intolerance, muscle dysfunction, muscle cramps, headache, facial abnormalities, enlarged liver, muscle wasting, seizures, chronic kidney disease, brain and nerve abnormalities, fluid on the brain, irregular heartbeat, heart disease, respiratory distress, low blood sugar, coma, and sudden death.
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What are the current treatments for Carnitine Palmitoyltransferase 2 Deficiency?
Treatment for carnitine palmitoyltranferase 2 deficiency involve a diet with high levels of carbohydrates and low amounts of fat and protein; avoiding fasting over 12 hours; exercise restriction; and the medication, bezafibrate.
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What are the Latest Advances for Carnitine Palmitoyltransferase 2 Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.