CAJ | 학술논문

目的探讨串联质谱技术在儿童有机酸代谢疾病鉴别诊断中的应用。方法对1200例遗传性代谢疾病高危儿童的干血滤纸片进行串联质谱分析比较。结果确诊患有有机酸血症的儿童患者有64例（占5.3%），其中甲基丙二酸尿症（MMA）26例，丙酸血症（PA）11例，生物素酶缺乏症5例，全羧化酶合成酶缺乏症10例；3-甲基巴豆酰辅酶A羧化酶缺乏症（MCC）2例，3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症（HMG）2例，β-酮硫解酶缺乏症（BKT）3例，异戊酸血症（IVA）1例，戊二酸血症（）GA-I型3例，戊二酸血症GA-I型1例。结论串联质谱技术在诊断儿童有机酸代谢疾病、早期干预与预防遗传性代谢疾病的发生具有重要的作用。
목적탐토천련질보기술재인동유궤산대사질병감별진단중적응용。방법대1200례유전성대사질병고위인동적간혈려지편진행천련질보분석비교。결과학진환유유궤산혈증적인동환자유64례（점5.3%），기중갑기병이산뇨증（MMA）26례，병산혈증（PA）11례，생물소매결핍증5례，전최화매합성매결핍증10례；3-갑기파두선보매A최화매결핍증（MCC）2례，3-간기-3-갑기무이선보매A렬해매결핍증（HMG）2례，β-동류해매결핍증（BKT）3례，이무산혈증（IVA）1례，무이산혈증（）GA-I형3례，무이산혈증GA-I형1례。결론천련질보기술재진단인동유궤산대사질병、조기간예여예방유전성대사질병적발생구유중요적작용。
Obbjective: Discussion on Application of tandem mass spectrometry in organic acid metabolism in children with differential diagnosis of diseases. Methods: Tandem mass spectrometry was used for comparative analysis in dry blood filter paper 1200 cases of hereditary metabolic disease in high-risk children. Results: Diagnosed with organic acidemia children patients 64 cases (5.3%), wherein the methylmalonic aciduria (MMA) in 26 cases, propionic acidemia (PA) in 11 cases, biotinidase deficiency in 5 cases, holocarboxylase synthetase deficiency in 10 cases; 3- tiglyl coenzyme A carboxylase deficiency disease (MCC) in 2 cases, 3- hydroxy -3- methyl amyl two acyl coenzyme A lyase deficiency (HMG) in 2 cases, beta ketothiolase deficiency (BKT) in 3 cases, isovaleric acidemia (IVA) in 1 cases, glutaric acidemia (GA-I) in 3 cases, 1 cases of glutaric acidemia type GA-II.Conclusion: Tandem mass spectrometry technology plays an important role in diagnosis of children's organic acid metabolism disease, early intervention and prevention of inherited metabolic diseases.