关键词: 遗传代谢病, 串联质谱, 筛查

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