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1、JInheritMetabDis(2017)40:49–74DOI10.1007/s10545-016-9979-0GUIDELINESGuidelinesforthediagnosisandmanagementofcystathioninebeta-synthasedeficiency1,2345AndrewA.M.Morris&ViktorKožich&SaikatSantra&GenerosoAndria&678TawfegI.M.Ben-Omran&AnupamB.Chakrapani&EllenCrushell&2,9101
2、1,12,13MickJ.Henderson&MichelHochuli&MartinaHuemer&1415168MiriamC.H.Janssen&FrancoisMaillot&PhilipD.Mayne&JennyMcNulty&1718193TaraM.Morrison&HeleneOgier&SiobhanO’Sullivan&MarkétaPavlíková&201,212223IsabelTavaresdeAlmeida&AllysonTerry&SufinYap&HenkJ.Blom&24KimberlyA.Chap
3、manReceived:23May2016/Revised:11August2016/Accepted:12September2016/Publishedonline:24October2016#TheAuthor(s)2016.ThisarticleispublishedwithopenaccessatSpringerlink.comAbstractCystathioninebeta-synthase(CBS)deficiencyisadietand/orbetaine.Incontrast,mildlyaffectedpatien
4、tsarerareinheriteddisorderinthemethioninecatabolicpathway,inlikelytopresentasadultswiththromboembolismandtore-whichtheimpairedsynthesisofcystathionineleadstoaccu-spondtotreatmentwithpyridoxine.Inthisarticle,wepresentmulationofhomocysteine.Patientscanpresenttomanydif-rec
5、ommendationsforthediagnosisandmanagementofCBSferentspecialistsanddiagnosisisoftendelayed.Severelyaf-deficiency,basedonasystematicreviewoftheliterature.fectedpatientsusuallypresentinchildhoodwithectopiaUnfortunately,thequalityoftheevidenceispoor,asitoftenlentis,learningd
6、ifficultiesandskeletalabnormalities.Theseisforrarediseases.Westronglyrecommendmeasuringthepatientsgenerallyrequiretreatmentwithalow-methionineplasmatotalhomocysteineconcentrationsinanypatientCommunicatedby:AvihuBonehThisarticlemakesrecommendationsforthediagnosisandmanag
7、ementofCBSdeficiency,basedonasystematicreviewoftheliterature.8*AndrewA.M.MorrisNationalCentreforInheritedMetabolicDisorders,TempleStreetAndrew.morris@cmft.nhs.ukChildren’sUniversityHospital,Dublin,Ireland9BiochemicalGenetics,StJames’UniversityHospital,Leeds,UK1Institute
8、ofHumanDevelopment,UniversityofManchester,10DivisionofEndocrinology,DiabetesandClinicalNutrition,Manchester,UK
