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肉碱在脂肪酸β-氧化代谢以及调节细胞内外游离辅酶A中发挥重要作用。大部分脂肪酸β-氧化代谢障碍和某些有机酸血症会蓄积异常的酰基肉碱,因此通过血浆酰基肉碱分析可检测出20多种先天性遗传代谢病。现主要综述引起血浆酰基肉碱异常的相关疾病及血浆酰基肉碱分析在遗传代谢缺陷病筛查诊断中的应用。
Carnitine plays an important role in beta-oxidation of fatty acids and in the regulation of free coenzyme A inside and outside cells. Most fatty acid β-oxidation disorders and some organic acidemias accumulate abnormal acylcarnitine, so more than 20 congenital hereditary metabolic diseases can be detected by plasma acylcarnitine analysis. Here are the main review of the relevant diseases caused by abnormal plasma acylcarnitine and the application of plasma acylcarnitine in the screening of genetic metabolic defects.