Carnitine Palmitoyltransferase I deficiency (CPT IA)

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).

Signs and symptoms of CPT I deficiency often appear during early childhood. Signs and symptoms include low blood sugar and low ketone levels, enlarged liver, liver malfunction, and elevated levels of carnitine in the blood. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death.