OroticaciduriaFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchMedicalconditionOroticaciduriaOthernamesOrotidylicpyrophosphorylaseandorotidylicdecarboxylasedeficiency;Uridinemonophosphatesynthase(UMPS)deficiency[1]StructureoforoticacidSpecialtyHematology SymptomsMegaloblasticanemia;developmentaldelaysCausesAutosomalrecessivemutationoftheUMPSgeneDifferentialdiagnosisMitochondrialdisorders;Lysinuricproteinintolerance;liverdisease[1]TreatmentUridinetriacetateOroticaciduria(AKAhereditaryoroticaciduria)isadiseasecausedbyanenzymedeficiencyresultinginadecreasedabilitytosynthesizepyrimidines.Itistheonlyknownenzymedeficiencyofthedenovopyrimidinesynthesispathway.[2]OroticaciduriaischaracterizedbyexcessiveexcretionoforoticacidinurinebecauseoftheinabilitytoconvertoroticacidtoUMP.[3][1]Itcausesmegaloblasticanemiaandmaybeassociatedwithmentalandphysicaldevelopmentaldelays.Contents1Signsandsymptoms2Causeandgenetics3Diagnosis4Treatment5References6ExternallinksSignsandsymptoms[edit]Patientstypicallypresentwithexcessiveoroticacidintheurine,failuretothrive,developmentaldelay,andmegaloblasticanemiawhichcannotbecuredbyadministrationofvitaminB12orfolicacid.[3][2]Causeandgenetics[edit]Oroticaciduriahasanautosomalrecessivemodeofinheritance.ThisautosomalrecessivedisorderiscausedbyadeficiencyintheenzymeUMPS,[4]abifunctionalproteinthatincludestheenzymeactivitiesofOPRTandODC.[5]Inonestudyofthreepatients,UMPSactivityrangedfrom2-7%ofnormallevels.[2]Twotypesoforoticaciduriahavebeenreported.TypeIhasaseveredeficiencyofbothactivitiesofUMPsynthase.InTypeIIoroticaciduria,theODCactivityisdeficientwhileOPRTactivityiselevated.Asof1988,onlyonecaseoftypeIIoroticaciduriahadeverbeenreported.[2]Oroticaciduriaisassociatedwithmegaloblasticanemiaduetodecreasedpyrimidinesynthesis,whichleadstodecreasednucleotide-lipidcofactorsneededforerythrocytemembranesynthesisinthebonemarrow.[6]Diagnosis[edit]Elevatedurinaryoroticacidlevelscanalsoarisesecondarytoblockageoftheureacycle,particularlyinornithinetranscarb

Orotic aciduria refers to an excessive excretion of orotic acid in the urine. Orotic acid is an intermediate product produced during the ...SpotlightPracticePearlsWomen'sHealthZosterClinicalRoleSeeAll>HospitalOncologyPharmacyTechnicianRetailSpecialtyPharmacyStudentClinicalSeeAll>AllergyBrainHealthBreastCancerCardiovascularHealthCoronavirusCoughandColdDiabetesFluHematologyImmunizationInfectiousDiseaseNeurologyPainManagementVitaminsandSupplementsAboutUsAdvertiseContactUsPrivacyPolicyTerms&ConditionsDoNotSellMyInformation©2021MJHLifeSciences™andPharmacyTimes.Allrightsreserved.WhatIsHereditaryOroticAciduria?October12,2015TheFDArecentlyapprovedanewtreatmentforarareconditioncalledhereditaryoroticaciduria.TheFDArecentlyapproveduridinetriacetate(Xuriden),atreatmentforarareconditioncalledhereditaryoroticaciduria.Oroticaciduriareferstoanexcessiveexcretionoforoticacidintheurine.Oroticacidisanintermediateproductproducedduringthepyrimidinesynthesispathway.Theinabilitytoconvertoroticacidresultsinthebodybeingunabletonormallysynthesizeuridine,anecessarycomponentofRNA,whichultimatelyleadstoafailuretothrive.1Hereditaryoroticaciduriaisarareautosomalrecessivedisorder.Aheterozygouspatientmaynothavesymptoms,buttherehavebeenreportsofheterozygouspatientsexperiencingsymptoms.2Thesymptomsofthediseaseincludementalretardation,growthretardation,megaloblasticanemia,immunodeficiency,andhighlevelsoforoticacidinthepatient’surine,approximately500to1000timesthenormalamount.MegaloblasticanemiadoesnotrespondandcannotbecuredbyadministrationofvitaminB12orfolicacid.2,3UridinetreatmentiseffectivebecauseitcaneasilybeconvertedintoausableformandthenusedbythebodyforRNAformation.Xuridenisavailableinsingle-usepacketsthatcontainoralgranulesandcanbeadministeredwithmilk,formula,orsoftfoodsuchasapplesauce,pudding,oryogurt.Therecommendeddoseis60mg/kgdaily,whichcanbetitratedto120mg/kgdailyifneeded(maximumof8g/day).Reasonstoincreasethedoseinclude:Oroticacidlevelsintheurineremainabovenormalorincreaseabovetheusualorexpec

Orotic aciduria refers to an autosomal recessive condition characterized by excessive excretion of orotic acid in urine in the presence of normal levels of ...SkiptocontentStudysmartthisfall:50%off&BONUSlearningcourse!OfferendsSeptember7@11:59PMPT.Buynow!SummaryofOroticaciduriaOroticaciduriareferstoanautosomalrecessiveconditioncharacterizedbyexcessiveexcretionoforoticacidinurineinthepresenceofnormallevelsofammoniaintheurine.Oroticaciduriaisassociatedwithmegaloblasticanemiaduetodecreasedpyrimidinesynthesis,whichleadstodecreasednucleotide-lipidcofactorsneededforerythrocytemembranesynthesisinthebonemarrow.Inadditiontothecharacteristicexcessiveoroticacidintheurine,patientstypicallyhavemegaloblasticanemia(UMPsynthasedeficiency)whichcannotbecuredbyadministrationofvitaminB12orfolicacid.OroticaciduriacanalsocauseinhibitionofRNAandDNAsynthesisandultimately,failuretothrive.MolecularbiologyNuclearstructureDNAstructureTranscriptionofDNATranslationofmRNAGeneregulationEpigeneticsAminoacidsandproteinfoldingProteinstructureandsynthesisNucleotidemetabolismDNAreplicationLacoperonDNAdamageandrepairCellcycleMitosisandmeiosisDNAmutationsDisordersofmolecularbiologyLesch-NyhansyndromeOroticaciduriaAdenosinedeaminasedeficiencyXerodermapigmentosumLi-FraumenisyndromeBloomsyndromeFanconianemiaMcCune-AlbrightsyndromeAcuteradiationsyndromePurineandpyrimidinesynthesisandmetabolismdisorders:PathologyReviewAssessmentsOroticaciduriaFlashcardsStart0 / 9 completeQuestionsStart1 / 1 completeHighYieldNotes3pagesFlashcardsOroticaciduria9 flashcardsStartSavetoQueueQuickviewPreviewOroticaciduriaresultsfromadeficiencyof(enzyme).QuestionsUSMLE®Step1stylequestionsUSMLEStartSavetoQueue1 questionsUSMLE®Step2stylequestionsUSMLEStartSavetoQueue1 questionsPreviewA2-year-oldinfantboyisreferredtothepediatrician'sofficeforanevaluationofrefractorymegaloblasticanemia.Hismedicalhistoryisrelevanttolow-weightandgrowthbelowthethirdpercentilesincebirth.Thepatientcurrentlytakesnutritionalsupplementswithfolateandcobala

Hereditary orotic aciduria is caused by variations in the uridine monophosphate synthetase (UMPS) gene. Genes provide instructions for creating proteins that ...ScrollToTopAboutNewsEventsContactPODCASTStoredonateMenuforPatientsandFamiliesInformation&ResourcesRareDiseaseInformationRareDiseaseVideoLibraryPatientandCaregiverResourceCenterInformationonClinicalTrialsandResearchStudiesCOVID-19ResourcesHelptoAccessMedicationsPatientAssistanceProgramsOtherFinancialAssistanceConnectwithOthersFindaPatientOrganizationRareDiseaseDay®PatientStoriesTakeActionAttendEventsAdvocateSupportCloseforPatientOrganizationsJoinMembershipNetworkValueofMembershipMembershipCriteriaApplyforMembershipNonprofitResourcesMemberResourcesRareLaunch®WebinarSeriesCOVID-19RapidResponseLeadershipSeriesOtherWaystoPartnerGrowyourorganizationPatientRegistriesAdvocacyRareDiseaseDay®RDCA-DAP®MembershipProfilesAboutourMembersMemberListRareCancerCoalition™CloseforCliniciansandResearchersResourcesResourcesforMedicalProfessionalsRareDiseaseInformationResourcesforyourPatientsContinuingMedicalEducationResearchOpportunitiesResearchGrantProgramRequestsforProposalsResearchGrantRecipientsConnectLendYourExpertiseRareDiseaseDay®CloseNORDRareDiseaseAdvocacyNORD’sPolicyinActionIssueOverviewsNORDontheIssuesPolicySteeringCommitteeNORDStateReportCardNationalPartnershipsTakeActionLocallyJointheRareActionNetwork®ProjectRDACContactYourRepresentativesTakeActionRareInsights®RareInsights®5MythsAboutOrphanDrugsandtheOrphanDrugActCloseGetInvolvedDonateNowGiveWaystoGiveDonatetoResearchNORD®StoreEducateEducationalInitiativesRaiseAwarenessIdentifyRareDiseaseExpertsJoinParticipateinEventsBecomeaMemberRareCancerCoalition™EmploymentOpportunitiesCorporateCouncilAbouttheCorporateCouncilCurrentMembersCouncilCodeofConductJointheCouncilCloseHome/ForPatientsandFamilies/RareDiseaseInformation/HereditaryOroticAciduriaRareDiseaseDatabase0-9•A•B•C•D•E•F•G•H•I•J•K•L•M•N•O•P•Q•R•S•T•U•V•W•X•Y•ZPrintHereditaryOroticAciduriaNORDgratefullyacknowledgesWil