串联质谱技术选择性筛查遗传代谢病高危患儿552例初步分析

Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk

摘要:

目的：应用串联质谱（tandem mass spectrometry, MS/MS）技术进行遗传代谢病（IEM）高危儿筛查，初步了解我国 IEM 的发病种类和阳性率，为其有效防治提供科学依据。方法：利用MS/MS技术对在河北省石家庄市8所省、市级医院就医的552例可疑 IEM 患儿的血液样本进行 IEM 筛查。结果：发现阳性患儿64例，阳性率为11.6%。其中甲基丙二酸血症或丙酸血症33例，苯丙酮尿症2例，肉碱棕榈酰转移酶缺乏Ⅰ型3例，长链酰基辅酶 A 脱氢酶缺乏症1例，中链酰基辅酶A脱氢酶缺乏症2例，枫糖尿症6例，短链酰基辅酶A脱氢酶缺乏症2例，戊二酸血症Ⅰ型2例，异戊酸血症2例，同型胱氨酸尿症2例，肉碱缺乏症4例，酪氨酸血症1例，精氨酸琥珀酸尿症1例，瓜氨酸血症2例，精氨酸血症1例。结论：MS/MS技术是筛查诊断IEM的有效工具。

Abstract:

OBJECTIVE: To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM. METHODS: MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province. RESULTS: Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. CONCLUSIONS: MS/MS can be used to screen and classify IEM.