Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/73957
Título: Impact of age at onset and newborn screening on outcome in organic acidurias
Autores/as: Heringer, Jana
Valayannopoulos, Vassili
Lund, Allan M.
Wijburg, Frits A.
Freisinger, Peter
Baric, Ivo
Baumgartner, Matthias R.
Burgard, Peter
Burlina, Alberto B.
Chapman, Kimberly A.
Cortes I Saladelafont, Elisenda
Karall, Daniela
Muehlhausen, Chris
Riches, Victoria
Schiff, Manuel
Sykut-Cegielska, Jolanta
Walter, John H.
Zeman, Jiri
Chabrol, Brigitte
Koelker, Stefan
Aksglaede,Lise
Avram,Paula
Balmaseda-Serrano,Elena
Bauchart,Eric
Blasco-A lonso,Javier
Brassier,Anaïs
Chakrapani,Anupam
Yin-Hsiu, Chien
Couce,Maria L.
de Laet,Corinne
de Lonlay,Pascale
de Meirleir,Linda
Dionisi-Vici,Carlo
Dobbelaere,Dries
Garcia-Cazorla,Angeles
Gleich,Florian
Gradowska,Wanda
Grünewald,Stephanie
Haege,Gisela
Häberle,Johannes
Wuh-Liang, Hwu
Harikleia, Ioannou
Lachmann,Robin
Langereis,Eveline
Leão Teles,Elisa
López-Laso,Eduardo
Matsumoto,Shirou
de Baulny,Hélène Ogier
Ortez,Carlos
Peña Quintana, Luis 
Ruiz-Gomez,Angeles
Sarajlija,Adrijan
Summar,Marshall L.
Thompson,Nicholas
Vara,Roshni
Vives Pinera,Inmaculada
Williams,Monique
Zielonka, Matthias
Clasificación UNESCO: 32 Ciencias médicas
241108 Metabolismo humano
Palabras clave: Coa Dehydrogenase-Deficiency
Propionic Acidemia
Methylmalonic Acidurias
Phenotypic Spectrum
Isovaleric Acidemia, et al.
Fecha de publicación: 2016
Publicación seriada: Journal of Inherited Metabolic Disease 
Resumen: To 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 < 0.001], but not compared to the EO group. Of all OAD patients 71 % remained asymptomatic until day 8. Patients with cobalamin-nonresponsive MMA (MMA-Cbl(-)) and GA1 identified by NBS were less likely to have movement disorders than those diagnosed by selective screening (MMA-Cbl(-): 10 % versus 39 %, p = 0.002; GA1: 26 % versus 73 %, p < 0.001). For other OADs, the clinical benefit of NBS was less clear. Reported age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. Variable drug combinations, ranging from 12 in MMA-Cbl(-) to two in isovaleric aciduria, were used for maintenance treatment. The effects of specific metabolic treatment strategies on the health outcomes remain unclear because of the strong influences of age at onset (EO versus LO), diagnostic mode (NBS versus selective screening), and the various treatment combinations used.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.
URI: http://hdl.handle.net/10553/73957
ISSN: 0141-8955
DOI: 10.1007/s10545-015-9907-8
Fuente: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 39 (3), p. 341-353, (Mayo 2016)
Colección:Artículos
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