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

详细信息

中图分类号: R725.7
计量
- 文章访问数: 4114
- HTML全文浏览量: 13
- PDF下载量: 1390
- 被引次数: 0
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

HTML全文

参考文献(25)

[1]Tanaka K, Budd MA, Eforn ML, et al.Isovaeric acidemia:A newgenetic defect of leucine metabolism[J].Proc.Natl Acad Sci U S A, 1966, 56:236-242.

[2]Matsumoto I, Kuhara T.Inborn error of amino acid and organicacid metabolism.In Mass Spectrometry;clinical and biomedicalapplications[M].New York:Plenum Press, 1992:259-298.

[3]Matsumoto I.In GC/MS practical chemical diagnosis[M].Tokyo:Soft Science, 1995:3-14. (in Japanese)

[4]Zhang C, Kuhara T, Matsumoto I.Simultaneous determinationof sugars and sugar alcohols and its application in the study ofdiabetes mellitus by GC/MS[J].J Kanazawa Med Univ, 1996, 21 (4) :399-410. (in Japanese)

[5]Matsumoto I, Zhang C.Application of mass spectrometry during medical clinical[J].J Medical Technology, 2000, 44:27-35. (inJapanese)

[6]Zhang C, Xu K, Dave UP, et al.Inborn errors of metabolismdiscovered in Asian department of pediatrics and mentalretardation research center[J].J Chromatogr B Biomed Sci Appl, 2000, 746 (1) :41-49.

[7]Zhang C.Prevention, Diagnosis and Therapy of Inborn Errors ofMetabolism[J].Chin J Contemp Pediatr.2005, 7 (5) :477-480.

[8]Zhang C.Zhang M.Clinical test and diagnosis of inborn errorsof metabolism[M].JIANYAN YU LINCHUANG ZHENDUAN-ERKEXUE FENCE, Beijing People's Military Medical press 2006:45-130.

[9]Kuhara T.Noninvasive human metabolome analysis for differentialdiagnosis of inborn errors of metabolism[J].J Chromatogr B AnalytTechnol Biomed Life Sci, 2007, 855 (1) :42-50.

[10]Millington DS, Norwood DL, Kodo N, et al.Application of fastatom bombardment with tandem mass spectrometry andliquid chromatography/mass spectrometry to the analysis ofacylcarnitines in human urine, blood, and tissue[J].Anal Biochem, 1989, 180 (2) :331-339.

[11]Rashed MS, Ozand PT, Bucknall MP, et al.Diagnosis of inbornerrors of metabolism from blood spots by acylcarnitines andamino acids profiling using automated electrospray tandem massspectrometry[J].Pediatr Res, 1995, 38 (3) :324-331.

[12]Chace DH, Kalas TA, Naylor EW.Naylor1 Use of tandem massspectrometry for multianalyte screening of dried blood specimensfrom newborns[J].Clin Chem, 2003, 49 (11) :1797-1817.

[13]Kushnir MM, Rockwood AL, Bergquist J, et al, High sensitivitytandem mass spectrometry assy for serum estrone andestradiol[J].American J of clinical pathology 2008, 129:530-539.

[14]Baumgartner C, Lewis GD, Netzer M, et al.A new data miningapproach for profiling and categorizing kinetic patterns ofmetabolic biomarkers after myocardial injury[J].Bioinformatics, 2010, 26:1745-1751.

[15]Hansen K, Horslen S.Metabolic liver disease in children[J].LiverTransplantat, 2008, 14:391-411.

[16]Lefkowitch JH.Advances in hepatobiliary pathology:update for2010[J].Clin Liver Dis, 2010, 14 (4) :747-62.

[17]Vangala S, Tonelli A.Biomarkers, Metabonomics, and drugdevelopment:can inborn errors of metabolism help in understandingdrug toxicity?[J].The AAPS J, 2007, 9 (3) :284-297.

[18]Kobayashi K, David SS, Iijima M, et al.The Gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrierprotein[J].Nature Genetics, 1999, 22 (2) :159-163.

[19]Saheki T, Kobayashi K.Iijima M, et al.Pathophysiology of citrindeficiency.Hepatic encephalopathy and nitrogen metabolism[M]. (eds.Haussinger D, Kircheis G, Schliess F) Springer Science, 2006, 320-328.

[20]Ohura T, Kobayashi K, Tazawa Y, et al.Clinical pictures of 75 patientswith neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J].J Inherit Metab Dis, 2007, 30 (2) :139-144.

[21]Lu YB, Kobayashi K, Ushikai M, et al.Frequecy and distributionin east asia of 12 mutations identified in the SLAC25A13 gene ofJapanese patients with Citrin deficiency[J].J Hum Genet 2005, 50:338-346.

[22]Saheki T, Kobayashi K, Terashi M, et al.Reduced carbohydrateintake in citrin-deficient subjects[J].J Inherit Metab Dis, 2008, 31 (3) :386-394.

[23]Fukushima K, Yazaki M, Nakamura M, et al.Conventional diettherapy for hyperammonemia is risky in the treatment of hepaticencephalopathy associated with citrin deficiency[J].Inter Med2010, 49 (3) :243-247.

[24]Heubi JE, Setchell KD, Bove KE.Inborn errors of bile acidMetabolism[J].Seminars Liver Dis, 2007, 27 (3) :282-294.

[25]Nittono H, Takei H, Unno A, et al.Diagnostic determinationsystem for high-risk screening for iborn errors of bile acidmetabolism based on an analysis of urinary bile acids using galachromatogramphy-mass spectrometry'result for 10 years inJapan[J].Pediatr International, 2009, 51:535-543.

施引文献

资源附件(0)

访问统计