GCMS尿代谢谱分析在尿素循环异常疾病诊断中的应用

《GCMS尿代谢谱分析在尿素循环异常疾病诊断中的应用》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。

1、口N卜厶:]T1O9742112-OGCMS尿代谢谱分析在尿素循环异常疾病诊断中的应用UreaCycleDisordersDiagnosisbyUrinaryMetabolicProfileAnalysisbyGCMS1）李琦、2）赵宁、1）张春花1）松本生命科学研究所，2）敏路思（北京）医学检验所HumanmetabolicpathwayiMMyntMiisFfueiowandpoolPh<«tylDfO^anc«dbiotyvtvmit口；meuboiistiCgrDOI屮Z・15(0)CylodegP4S0olismCAcycle出Pe

2、^lCiil'AAMC«pM*OtponflmosEmetrFlavonoidA0V"W[8]Phytoch

3、«typesofN-^lycanbmynVwtisNucleotideMetabolismNuclecideMetabolismMetabolismofCofactorsandVitaminsn：：~ai^aTi^Urw?«ajTgtabohvn)[••.•卜IuLSpNT*两CarbohydrateMetabolismAminoAcidMetabolisfHISulfbr1±d、—二■亠.IHT•T収・uiog4T4T4bk»y«r»tw•丿••••••Mocot*rp«noi^IIttonterp*no»dtxosynCMSfSI)Jtw

4、■八inMcthofmonottTerp^ooidMc・bOMPrimarybtKeodbmyMhMAtMetabolismofTerpenoidsandPolyketidesXenobioticsBiodegradationandMetabolismFattyacidmetabolismfpUTJVJI*l牛弊"野2dt»on•nmitochoMmSterol^tynmetn、“E.Zcg)2・vcztMdoAC%、qUl(y：■€tWMVCK$dW5ohvnUearMetabolismofOtherAminoAcid尿素循环ureacycl

5、e人体内蛋白质分解氮元素代谢的最终途径。直接影响体内血氨浓度N-Acetylglutamatesynthetase(EC2.3.1.1;MIM237310)COOHCOOHICOOH(CH/

6、+c=oINAGS(CH亠O十「I

7、

8、HCH—NH2sIch-nh-c-ch3WCOOHCoACOOH2ATPAcetylCoAGlutamicAcidN-acetyl-glutamicacidCPSJ2ADPr.Hco3Carbamoylphosphatesynthase(EC6.3.4.16;MIM237300)+2PiCarbamylphosphateIIIII

9、IOTC•ornithinetranscarbamylasc(EC2.1.3.3;MIM311250)Ornithine__CH—NHC=OO▼IIH.N-C-OPO.H(CH2)Arginase(EC3.531;MIM207800)Ornithine,COOHO・h2n—c—nh2ArginaseUreaC=NHArginine少(CH2)3CH—NHCOOHNH(CH2)3COOHNHIIC—NArgininosuccinateLyase(EC4.3.2.1;MIM207900)COOHFumaricAcidch-nh2COOHNHCOOHATPVAM

10、P+2PiCOOHCOOHASSAsparticAcidCitrulline平甩斤citrullineCH—NCOOHArgininosuccinatesynthetase(EC6・3・4・5；MIM215700)ArgininosuccinicAcid尿素循环异常疾病Ureacycledisorders(UCD)线粒体N-Acetylglutamatesynthetase(EC2.3.1.1:MIM237310)2个场所COOHCOOHII细胞质IIII(CH2)2ch-nh2COOHGlutamicAcidP5DC

11、IIOTC•ornithinetranscarbamylase(E