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