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中链酰基辅酶A脱氢酶缺乏症的筛查诊断及文献复习

杨宇奇,王淮燕,周红,王瑛,刘洪喜,江丽华,秦志强

Journal of Nanjing Medicial University（2019）

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Abstract
中链酰基辅酶A脱氢酶缺乏症(medium chain acyl-CoA dehydrogenase deficiency,MCADD)是一种常染色体显性遗传的先天性遗传代谢病,是由于中链酰基辅酶A脱氢酶的功能缺陷,导致中链脂肪酸β氧化不能正常进行,从而影响到能量利用和导致代谢中间产物蓄积引起的疾病.文献报道MCADD发病率与苯丙酮尿症相当[1],严重的可导致婴幼儿猝死.串联质谱(tandem mass spectyometry,MS/MS)是筛查与诊断该病的有效方法.本中心采用MS/MS技术筛查确诊1例MCADD患儿,对其进行了基因诊断,并结合相关文献报道较系统地分析了该病常见的疾病基因频谱.
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