CAJ | 학술논문

临床遗传性代谢病疑似患者9046例,进行尿气相色谱-质谱有机酸检测,共确诊患者564例(6.2％),包含28种疾病.其中有机酸血症311例,占55.1％,含13种疾病,甲基丙二酸血症最多见;氨基酸代谢病203例,占36.0％,含10种疾病,高苯丙氨酸血症及Citrin蛋白缺乏症多见；脂肪酸氧化代谢病50例,占8.9％,含5种疾病,多种酰基辅酶A脱氢酶缺乏症多见.
림상유전성대사병의사환자9046례,진행뇨기상색보-질보유궤산검측,공학진환자564례(6.2％),포함28충질병.기중유궤산혈증311례,점55.1％,함13충질병,갑기병이산혈증최다견;안기산대사병203례,점36.0％,함10충질병,고분병안산혈증급Citrin단백결핍증다견；지방산양화대사병50례,점8.9％,함5충질병,다충선기보매A탈경매결핍증다견.
Gas chromatography-mass spectrometry was used to test urine organic acids in 9046 subjects suspected of inherited metabolic diseases.Finally,564 cases (6.2％) with 28 kinds of diseases were identified.Among these patients,311 cases (55.1％) suffered from organic acidemias,including 13 kinds of diseases in which the most common one was methylmalonic acidemia; 203 cases (36.0％) had amino acid diseases consisting of 10 kinds,among which hyperphenylalaninemia and citrin deficiency were common; 50 cases (8.9％) had fatty acid oxidation disorders including 5 different diseases,among which multiple acyl-CoA dehydrogenase deficiency was relatively common.