abnormalitiesacidacidaemiaaciduriaacuteadultadultsaldalkaptonuriaanalysisapproacharginasebarthbeyondbh4biomarkerbiomarkerscasecausedcbscdgchainchallengeschangeschildchildrenclassicclinicalcoacohortcongenitalcsfcycledeficiencydehydrogenasedelaydependentdevelopmentaldiagnosingdiagnosisdiagnosticdietarydiseasedisorderdisordersdonearlyepilepsyepisodiceveryoneexpandingfailurefirstfootprintsfuturegabriellagalactosaemiagalactosemiagenegenomicglucoseglycerolglycogenglycosylationgsdgsdsguidelineshepaticheterozygoushighhomocysteinehorvathidentifiediiiimdinfantileinheritedinsightsisolatedisoleucinejourneykinaselatelchaddlessonslinkedliverlonglsdlysosomalmanagementmanagingmcardlemedicinemetabolicmetabolismmethylmalonicmissensemitochondrialmldmmamngiemodelmodellingmousemovementmpsmsudmthfrmysteriesneedsneonatalneurologicalnewbornniemannnoveloldonsetoralotcoutcomespatientpatientspenetrancepgm1phenotypephenotypicphenylbutyratephenylketonuriapickpilotpkuplasmapompepopulationporphyriapostpregnancypresentationsprevalenceprogrampropionicproteinpsychosocialpyridoxinerecurrentreductionrelatedreplacementresearchrespiratoryreviewroundscreeningshortcastsiblingsspecialspectrumspeechstoragestudysuccessfulsymptomssyndrometakingtalkingtango2therapiestherapytowardstransplantationtreatedtreatmenttrialstrifunctionaltypeureaurineusevalinevariantvariantswesyearyears