What is Carnitine Palmitoyltransferase IA Deficiency?
Carnitine palmitoyltransferase IA deficiency (CPT1A deficiency) is an inherited disease in which the body cannot process long-chain fatty acids (a type of fat) and turn them into energy. Symptoms occur in severe episodes, often during long periods without eating and/or during times of fever or gastrointestinal illness. A key symptom of the disease is low blood sugar (hypoglycemia) combined with low blood levels of ketones, a by-product of fat breakdown which is used for energy. Together, these symptoms are known as hypoketotic hypoglycemia. Prolonged periods of hypoketotic hypoglycemia can lead to loss of consciousness or seizures. Other symptoms of CPT1A deficiency include an enlarged liver, muscle weakness, and damage to the liver, heart, and brain due to excess fatty-acid buildup. If untreated, the disease can be life-threatening. Pregnant women whose fetus has CPT1A deficiency (and therefore is herself a carrier of CPT1A deficiency) are at risk of developing a complication called f
