最新Newborn screening for MCADD：对于MCADD新生儿筛查-药学医学精品资料.ppt

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1、最新NewbornscreeningforMCADD：对于MCADD新生儿筛查-药学医学精品资料MCADDWhatisMCADD?Howdoesitaffectindividualswhohaveit?Whatisknownaboutlongtermeffects?FeedbackfromnewbornscreeningprogrammesinothercountriesWhyisitbeingaddedtonewbornscreeninginScotland?WhatisMCADD?Whenisfattyacidbreakdownactivated?JustafterafeedFast

2、edforashorttimeFastedforalongertime,glucoseandinsulinlevelsbeginningtofallAcceleratedifunwell,vomiting,catabolic.Fattyacidsbecometheenergysourceforthebody&brainLackofinsulinindiabeticketoacidosisFattyacidoxidationinMCADDMCADdeficiencyRelativelackofketonesproducedfortheamountoffattyacidsbrokendown

3、LargequantitiesoftoxicfattyacidintermediatesproducedthatareencephalopathicInfantbecomesdrowsy,comatoseandincreasinglyhypoglycaemicRapidrecoverywhenglucosegivenreplenishescirculatingglucoseraisesinsulinlevels.Thisswitchesofffattyacidoxidation&stopstoxicintermediateproductionDiagnosisinchildren/adu

4、ltswhohavenotbeennewbornscreenedInvestigationscarriedoutinselectedindividualsonlyOldertechnology-urineorganicacidsMorerecent-tandemmassspectrometryBothdetectcompoundsthatarepresentineveryoneintinyamountsduringnormalfattyacidoxidationButareincreasedduetotheblockinthemainfattyacidoxidationpathwayi

5、nMCADdeficiency.SomemarkersareslightlyincreasedevenwhenpersoniswellMoremarkersareabnormallyincreasedwhenunwellDNAmutationsmayalsoidentifymostcasesMCADDeficiencyDiagnosisatacutepresentationlactateureaphosphatesuccinatecarbohydrateinternalstandardB-hydroxybutyrateacetoacetate5OHhexanoateadipateure

6、a7OHoctanoatesuberatesebacate3OHsebacateoctanoylglucuronidesuberylglycinehexanoylglycinephenylpropionylglycineMCADDDiagnosisatacutepresentationbyurineorganicacidscitrateheptenedioate5OHmethyl2furoatep-cresolureaInternalstandardhippurateHMMAp-OHphenylacetatelactateaconitateadipatesuberatehexanoylg

7、lycinephenylpropionylglycineMCADDiagnosisUrineorganicacids24hourslaterHowmightMCADDaffectindividualswhohaveit?TypicalMCADDcaseTypicalMCADDpresentation-medicalhistoryGirlbornbySVDat41weeksgestationBirthweight3.4kgNorma