Metabolism, Inborn ErrorsAcidosisAmino Acid Metabolism, Inborn ErrorsAcidosis, LacticAcidosis, RespiratoryAcidosis, Renal TubularLipid Metabolism, Inborn ErrorsNeonatal ScreeningPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsUrea Cycle Disorders, InbornBrain Diseases, Metabolic, InbornArgininosuccinic AciduriaHyperammonemiaAcid-Base EquilibriumPhenylketonuriasSmith-Lemli-Opitz SyndromeInfant, NewbornRefractive ErrorsHomogentisate 1,2-DioxygenaseCandidiasis, Chronic MucocutaneousBicarbonatesHydrogen-Ion ConcentrationPyruvate Metabolism, Inborn Errorsalpha-GalactosidaseHomocystinuriaFabry DiseaseAustralian Capital TerritoryOrnithine Carbamoyltransferase Deficiency DiseaseArgininosuccinic AcidIsovaleryl-CoA DehydrogenaseHypophosphatasiaHydroxocobalaminDiagnostic ErrorsBrain Diseases, MetabolicMethylmalonic AcidFailure to ThriveSodium BicarbonateMethylmalonyl-CoA MutasePentanoic AcidsMutationOxidoreductases Acting on CH-CH Group DonorsAlkalosisFructose Metabolism, Inborn ErrorsGlutaratesCarnitinePyruvate Dehydrogenase Complex Deficiency DiseaseMaple Syrup Urine DiseasePorphyria, ErythropoieticGlutaryl-CoA DehydrogenaseAmmonium ChlorideAmidinotransferasesMetal Metabolism, Inborn ErrorsHyperargininemiaLong-Chain-3-Hydroxyacyl-CoA DehydrogenaseAlkaptonuriaRare DiseasesCitrullinemiaMetabolic DiseasesMultiple Acyl Coenzyme A Dehydrogenase DeficiencyMucopolysaccharidosesMELAS SyndromeAmmoniaCarbon DioxideIron Metabolism DisordersAdenylosuccinate LyaseLysosomal Storage DiseasesNeuroaxonal DystrophiesRenal Tubular Transport, Inborn ErrorsPedigreeOrnithine-Oxo-Acid TransaminaseAcid-Base ImbalanceHyperoxaluria, PrimaryDiabetic KetoacidosisAcyl-CoA DehydrogenaseGenetic Diseases, InbornLactatesHypercapniaHomozygoteConsanguinityUroporphyrinogen III SynthetaseAlkalosis, RespiratoryArgininosuccinate LyaseLactic AcidMolecular Sequence DataCritical PathwaysPhlebotomyBlood Specimen CollectionFibroblastsPhenylalanine HydroxylaseOrnithineMagnetic Resonance SpectroscopyDiet, Protein-RestrictedTime FactorsIntellectual DisabilityTechnology Assessment, BiomedicalReference ValuesPhenotypeMutation, Missense