Abstract: 【Objective】 To summary the incidence and the treatment experience of high-risk infants with congenital genetic metabolic disease in Xi'an region during 2010 year,and to promote clinical medical workers to improve their power of understanding and processing to congenital genetic metabolic disease. 【Method】 The technology of high performance liquid chromatography tandem mass spectrometry (HPLC/MS/MS) were used to screen 104 blood samples from high risk cases from 17 hospital in Xi'an area during 2010. 【Results】 Seven of 104 patients (6.7%) were positive in our selective screening program, including three with methylmalonic acidemia,one with transient tyrosinemia, one with homocystinuria,one with maple syrup urine disease(MSUD),and one with medium chain acyl-CoA dehydrogenase deficiency (MCAD). 【Conclusions】 The incidence of congenital genetic metabolic disease is very high in high-risk infants in Xi'an.According to the incidence,they are in turn to the organic acids metabolic disease,the amino sour metabolic disease and the lipid metabolic disease.Early screening is favorable not only for children and family to early intervention,also be helpful for hospital diagnosed etiology and reduce the occurrence of medical dispute it should deserve further promotion activities.

Key words: inherited metabolic diseases, tandem mass spectrometry, screening

摘要： 【目的】 总结2010年来西安地区高危婴幼儿中先天性遗传代谢性疾病的发病情况和治疗经验,以期提高临床医疗工作者对先天性遗传代谢性疾病的重视程度、认识和处理能力。 【方法】 对2010年1-12月在西安地区共33家医院就诊的高危婴幼儿104例,应用高效液相串联质谱技术的方法进行35种遗传代谢性疾病的筛检。 【结果】 104例高危儿,7例确诊为先天性遗传代谢病,阳性率为6.7%。病种依次为:甲基丙二酸血症3例,一过性酪氨酸血症1例,同型胱氨酸尿症1例,枫糖尿病1例,中链酰基辅酶A脱氢酶缺乏症1例。 【结论】 西安地区先天性遗传代谢性疾病在有高危因素的婴幼儿人群中发生率极高,按发生率高低排序依次为有机酸代谢病、氨基酸酸代谢病及脂质代谢病。早期的筛查不仅对患儿及家庭早期干预有利,也有利于医院确诊病因,减少医疗纠纷的发生,值得进一步推广开展。

关键词: 遗传代谢病, 串联质谱, 筛查