原发性肉碱缺乏症(primary carnitine deficiency,PCD)是肉碱转运体OCTN2功能缺陷所致的脂肪酸氧化代谢病,属于常染色体隐性遗传病。肉碱缺乏导致长链脂肪酸不能进入线粒体参与β氧化,使乙酰CoA生成减少,当机体需要脂肪动员供能时,组织不能得到足够能量,且细胞内脂 Primary carnitine deficiency (PCD) is an oxidative metabolic disease of fatty acids caused by the functional defect of OCTN2, a carotid transporter. It belongs to autosomal recessive disease. Carnitine deficiency leads to long-chain fatty acids can not enter the mitochondria involved in beta oxidation, acetyl-CoA reduced production, when the body needs fat mobilization power, the organization can not get enough energy, and intracellular fat