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单词 Carnitine palmitoyltransferase deficiency
释义

Carnitine palmitoyltransferase deficiency

英语百科

Carnitine palmitoyltransferase I deficiency

(重定向自Carnitine palmitoyltransferase deficiency)
Carnitine palmitoyltransferase I deficiency has an autosomal recessive pattern of inheritance.

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.

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更新时间:2025/6/19 17:23:58