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目的研究末梢血串联质谱分析对于遗传代谢病高危儿童的诊断价值。方法本研究自2010年1月-2013年12月收集临床疑似遗传代谢病的病例617例,对末梢血进行氨基酸、酰基肉碱串联-质谱筛查,对筛查阳性的病例进行了尿代谢筛查或基因检测,得到了确诊。并总结分析了相关临床数据。结果 617例病例共诊断出遗传代谢病10种,共24例,总阳性率3.9%,其中氨基酸代谢病4例(16.7%),以瓜氨酸血症多见(3例,12.5%),有机酸代谢病14例(58.3%),以甲基丙二酸血症多见(8例,33.3%);脂肪酸氧化障碍6例(25%),以中链酰基辅酶A脱氢酶缺乏症、线粒体脑肌病多见(各2例,8.3%)。结论儿科医生应重视对遗传代谢病高危儿童进行末梢血氨基酸、酰基肉碱串联质谱分析以达到早诊断,早干预的目的。
Objective To study the diagnostic value of peripheral blood tandem mass spectrometry for high risk children with inherited metabolic diseases. Methods From January 2010 to December 2013, 617 cases of clinical suspected genetic metabolic diseases were collected. Amino acid and acylcarnitine tandem mass spectrometry (LC-MS / MS) screening of peripheral blood was performed. Urinary metabolic screening Check or genetic testing, has been diagnosed. And summarizes the relevant clinical data. Results A total of 24 cases of genetic metabolic diseases were diagnosed in 617 cases, with a total positive rate of 3.9%. Amino acid metabolism was found in 4 cases (16.7%), citrullosis (3 cases, 12.5%), 14 patients (58.3%) had organic acid metabolism, methylmalonic acidemia (8 cases, 33.3%), 6 fatty acid oxidation disorders (25%), moderate acyl coenzyme A dehydrogenase deficiency , Mitochondrial encephalomyopathy more common (2 cases, 8.3%). Conclusion Pediatricians should attach importance to the analysis of peripheral blood amino acid and acylcarnitin tandem mass spectrometry in order to achieve the purpose of early diagnosis and early intervention of high-risk children with inherited metabolic diseases.