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What is carnitine palmitoyl transferase deficiency?
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood.
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.
What is carnitine uptake defect?
Carnitine uptake defect (CUD) is an inherited condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. CUD is considered a fatty acid oxidation condition because people affected by CUD are unable to break down certain fats.
How common is primary carnitine deficiency?
Primary carnitine deficiency affects approximately 1 in 100,000 newborns. It is more common in Japan, where the incidence is 1 in 40,000, and in the Faroe Islands, where the prevalence is 1 in 300.
Is primary carnitine deficiency serious?
The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death.
What happens when you have carnitine deficiency?
Carnitine deficiency is a condition where the nutrient can’t reach your body’s cells. It can cause muscle weakness. It may also cause heart and liver problems. With the primary condition, not enough carnitine can get into cells because of a genetic problem.
What is carnitine palmitoyltransferase I deficiency?
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11 .
What is CPT1A deficiency?
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of fatty acid oxidation, the process by which the body breaks down fatty acids from food for energy. Fatty acids come from animal and vegetable fats.
What is CPT I deficiency?
Learn more Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
How is hypoglycemia treated in patients with CPT1A deficiency?
This can be accomplished with a high carbohydrate, low fat diet and frequent feeding. If acute hypoglycemia occurs, intravenous dextrose should be provided. Individuals with CPT1A deficiency should have regular liver function testing performed.