摘要
目的应用串联质谱检测干血滤纸片中的氨基酸和酰基肉碱谱，联合气相色谱-质谱技术检测尿液中有机酸谱，对遗传性代谢病进行筛查和诊断。方法留取4981例临床疑似遗传性代谢病儿童的干血滤纸片、尿或尿滤纸片，利用串联质谱仪检测血中氨基酸和酰基肉碱，利用气相色谱．质谱仪检测尿中有机酸，部分患儿结合相关酶活性测定及基因突变分析进行诊断。结果在4981例患儿中共诊断319例（6．4％）24种遗传代谢病，其中氨基酸代谢病155例（48．6％），8种疾病；有机酸血症150例（47．0％），10种疾病；脂肪酸8氧化代谢病14例（4．4％），6种疾病。结论串联质谱对氨基酸和脂肪酸代谢病的诊断具有特异性，气相色谱-质谱对有机酸血症的诊断具有特异性，部分氨基酸代谢病需要这2种技术联合应用才能诊断。
Objective To investigate the effects of tandem mass spectrometry （MS/MS） combined with gas chromatography mass spectrometry （GC-MS） in the diagnosis of inborn errors of metabelism in children. Methods Amino acids and acylcarnitines in the dry blood filter papers were tested by MS/MS, and the organic acid profiles in urea were tested by GC-MS among 4981 children suspected to be with inborn errors of metabelism from more than 100 hospitals in China. A few pediatric patients underwent analysis of activity of enzyme and gene mutation analysis too. Results 319 of the 4981 children （6.4%） were diagnosed as with 24 kinds of diseases： 155 of the 319 cases （48.6%） with 8 kinds of amino acid diseases （97 with hyperphenylalaninemia, 14 with maple syrup urine disease 13 with ornithine transcarbamylase deficiency, 13 with citrullinemia type Ⅱ , 10 with tyrosinemia type Ⅰ , 5 with citrulinemia type Ⅰ ,2 with homocystinuria, and 1 with arginasemia） ; 150 of the 319 cases （47.0%） were diagnosed as with 10 kinds of organic acidemias （81 with methylmalonic acidemia, 17 with propionic acidemia, 17 with multiple CoA carboxylase deficiency, 11 with glutaric acidemia type Ⅱ , 8 with isovaleric acidemia, 6 with β-keto thiolase deficiency, 5 with 3-methylcrotonyl-CoA carboxylase deficiency, and 3 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency） ; 14 cases （4.4%） were diagnosed as with 6 kinds of fatty acid disorders （5 with medium chain acyl-CoA dehydrogenase deficiency, 3 with very long chain acyl CoA dehydrogenase deficiency, 2 with short chain acyl-CoA dehydrogenase deficiency, 2 with multiple acyl-CoA dehydrogenase deficiency, 1 with camitine palmitoyl transferase type Ⅱ, and 1 with camitine palmitoyl transferase type Ⅰ ）. Conclusion MS/MS is specific for amino acid diseases and fatty acid disorders. GC-MS is specific for detect organic acidemias. And the diagnoses of part of amino acid diseases need the combination of both methods.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2008年第30期2122-2126,共5页
National Medical Journal of China
基金
国家“十一五”科技支撑计划课题基金资助项目（2006AB105A05、2006BA105A07）
国家高技术发展计划基金资助项目（2007AA022447）
上海市卫生局科研课题基金资助项目（2006043）
关键词
串联质谱法
气相色谱-质谱法
氨基酸类
遗传性代谢病
Tandem mass spectrometry
Gas chromatography-mass spectrometry
Amino acid
Inborn errors of metabolism
