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| CPT deficiency, hepatic, type IA ： ウィキペディア英語版 |
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.
Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, Carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.
==Symptoms==
Signs and symptoms of this disorder include low levels of ketones (products of fat breakdown that are used for energy) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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