Heringer, JanaValayannopoulos, VassiliLund, Allan MWijburg, Frits AFreisinger, PeterBaric, IvoBaumgartner, Matthias RBurgard, PeterBurlina, Alberto BChapman, Kimberly ACortes-Saladelafont, ElisendaKarall, DanielaMuhlhausen, ChrisRiches, VictoriaSchiff, ManuelSykut-Cegielska, JolantaWalter, John HZeman, JiriChabrol, BrigitteKölker, Stefan2025-01-072025-01-072015-12-21Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, et al. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016 May;39(3):341-353https://hdl.handle.net/10668/25714To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO). Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group (363 days, p  NBS is an effective intervention to reduce time until diagnosis especially for LO patients and to prevent irreversible cerebral damage in GA1 and MMA-Cbl(-). Huge diversity of therapeutic interventions hampers our understanding of optimal treatment.enAge of OnsetAmino Acid Metabolism, Inborn ErrorsAmino Acid Transport Disorders, InbornBrain Diseases, MetabolicAdolescentAdultBrain Diseases, Metabolic, InbornChildChild, PreschoolFemaleGlutaryl-CoA DehydrogenaseHumansInfantInfant, NewbornIntellectual DisabilityMaleMetabolic DiseasesMethylmalonic AcidMiddle AgedNeonatal ScreeningVitamin B 12Young Adultresearch article26689403Restricted AccessEstrategias de SaludSistema de RegistrosTamizaje NeonatalEstándares de ReferenciaInterpretación Estadística de Datos10.1007/s10545-015-9907-81573-2665https://accedacris.ulpgc.es/jspui/bitstream/10553/73957/1/impact_age_onset.pdf