遗传性代谢病是由于基因突变导致蛋白质分子在结构上发生缺陷,或者在蛋白质合成、分解速度上有异常,使蛋白质功能发生改变,导致出现相应的病理生理改变和临床表现[1]。为了对这些疾病进行早期诊断和治疗,台州市从2009年10月开始应用串联质谱技术进行新生儿遗传代谢病筛查[2], Hereditary metabolic disease is due to gene mutations lead to structural defects in protein molecules, or protein synthesis, the rate of abnormal decomposition, the protein function changes, resulting in the corresponding pathophysiological changes and clinical manifestations [1]. In order to early diagnosis and treatment of these diseases, Taizhou City, from October 2009 onwards using tandem mass spectrometry screening of neonatal genetic metabolic disease [2],