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肉碱结合酵素缺乏症(carnitine in combination with enzyme deficiency)是一种罕见的代谢障碍性疾病。该症在日本的发生率约为1/40 000;在澳洲则约为1/37 000~100 000。目前国内尚无该症在疾病发生率上的相关研究,据推估约为1/100 000~1 000 000以下;遗传模式为染色体隐性遗传;肉碱结合酵素缺乏症的诊断依据症状、体征、家族史、实验室检查、抽血经分子生物技术进行缺陷基因的检测予以确诊。目
Carnitine in combination with enzyme deficiency is a rare metabolic disorder. The incidence of this disease in Japan is about 1/40 000; in Australia it is about 1/37 000 ~ 100 000. Currently there is no such disease in the incidence of the disease-related studies, it is estimated that about 1 000 000 to 1 000 000 or less; genetic model for chromosomal recessive; diagnosis of carnitine combined with enzyme deficiency based on symptoms and signs , Family history, laboratory tests, blood tests for the detection of defective genes by molecular biology techniques. Head