质谱分析技术在儿童代谢性肝病诊断方面的应用

张春花

质谱分析技术在儿童代谢性肝病诊断方面的应用

张春花

日本国际松本生命科学研究所

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中图分类号: R725.7
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出版历程
- 出版日期: 2011-07-20

Application of mass spectrometry technique in the diagnosis of metabolic liver disease in children

Zhang ChunHua

摘要

摘要: 质谱分析技术已被公认为代谢性疾病化学诊断的有用手段,气相色谱质谱连用法可以对130余种代谢疾病进行筛查和化学诊断,串联质谱法可对30余种脂肪酸代谢异常疾患和部分氨基酸代谢异常同时筛查,作为先天性代谢疾病的新生儿筛查手段被广泛的应用在世界各国。代谢性肝病涉及不同的代谢途径的紊乱,多种儿童代谢性肝病都有疾病的特征性代谢谱存在,因此通过质谱分析的代谢组学研究将会对这类疾病的临床诊断非常有用。
- 代谢缺陷,先天性 /
- 肝疾病 /
- 质谱分析法
Abstract: For the chemical diagnosis of inborn errors of metabolism (IEMs) , the technique of mass spectrometry (MS) is considered to be the most important tool.Using gas chromatograph-mass spectrometry (GC-MS) analysis, enables the simultaneous measurement of multiple categories of metabolites and offer reliable and quantitative evidence for the screening or chemical diagnosis of more than 130 IEMs.Tandem mass spectrometer (MS/MS) can measure a series of acylcarnitines and amino acids in short time.Using MS/MS analysis about 30 fatty acid disorders and amino acid disorders can be screened and also applied for neonatal screening in the world.Metabolic liver disease contains various metabolic pathway disorders.Many kinds of metabolic liver diseases in children have their characteristic metabolic profile in urine and serum, therefore MS analysis for these kinds of liver disease diagnosis is very useful clinical test method.
- metabolism /
- inborn errors /
- liver diseases

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参考文献(25)

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