戊二酸尿症-型三例诊断分析及文献复习-张晓莉

－Ⅰ12111．2．4500521。31。3。1、、。1－Ｒ589B1006－9534201401－0124－02Diagnosisof3patientswithtype－1glutaricaciduriaandliteraturereiew．ZHANGXiao－liNIUGuo－huiJIATian－mingDONGYan．The3rdAffiliatedHospitalofZhengzhouUniversity450052AbstractObjectiveToinvestigatetheclinicalcharacteristicsanddiagnosismentalityofthepatientswithglutaricaciduriatype1GA1．MethodsTheclinicalfeatureswiththreepatientsofGA1wereanalyzed．ＲesultsＲetrogressionofdevelopmentwereallfoundin3casesafterinfectionorconvulsion．Onecasewasmacrocephalyonecasewassubduraleffusionwithunknownreason．ConclusionsTherewasnospecificityinclinicalmanifestationofGA－1butretrogressionofdevelopmentafterinfectionorconvulsionmacrocephalysubduraleffusionwithunknownreasonwerekeyfeatures．Toanalyzeorganicacidwithurinewasimportantbaseindiagnosis．KeywordsGlutaricaciduriatype1GaschromatographymassspectrometryⅠglutaricaciduriatype－1GA11975Goodman1/10－gaschromatographymassspectrometryGC－MS。23。11.111“1”。、20。。。2291。。53cm。24h、、。、3－Ⅰ。。、、。。1.2210“2431”24、2。2247。46cm。。、、。MＲI。、3－Ⅰ。1.3373、、CT。。MＲI。、、B2。22.1ⅠAGCDHAA3－1。GCDH19p13．22。2.23141·421·2014221。、、、、、。、511446883621113。2、。2.3618MＲI3。11327%GA－1GS。3。2.450－100mg·kg－1·d－1B2200～300mg·d－1。B2。、。GC－MS31B2100－200mg2。1988－1994GS－MSAmish7。Ⅰ。。、。1．M．22002．488－489．2KafilHussainNAMonavariABowellＲThorntonPNaughtenEOKeefeM．Ocularfindingsinglutaricaciduriatype1J．JPediatrOphthalmolStrabismus2000375∶289－293．3．Ⅰ1J．2012309∶882．4．J．2013421∶8．5．Ⅰ11J．20092712∶1115－1117．6．Ⅰ、J．2008151∶15－18．7StraussKAPuffenbergerEGＲobinsonDLMortonDH．TypeIgl-utaricaciduriapart1naturalhistoryof77patientsJ．AmJMedGenetCSeminMedGenet200315121C1∶38－52．2013－02－15櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀櫀117ＲVIgGIgM。ＲVIgM。1IgM。IgG35。3.4。6。。1．J．/2010296∶385．2NahmiasAJWallsKWStewartJAetal．TheTOＲCHcomplex－peri-natalinfectionsassociatedwithtoxoplasmaandrubellacytomegalo－andherpessimplexvirusesJ．PediatrＲes197152∶405－406．3CullenABrownSCuffekeyMetal．CurrentuseoftheTOＲCHscreeninthediagnosisofcongenitalinfec－tionJ．JInfect1998362∶185－188．4．TOＲCHJ．2011202∶392－394．5．TOＲCHJ．2008317∶742－746．68DooleyEKＲinglerＲLJr．PrenatalcaretouchingthefutureJ．PrimCare2012391∶17－37．2013－04－06·521·2014221