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Title: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Authors: Posset, Roland
Garcia-Cazorla, Angeles
Valayannopoulos, Vassili
Leão Teles, Elisa
Dionisi-Vici, Carlo
Brassier, Anaïs
Burlina, Alberto B.
Burgard, Peter
Cortès-Saladelafont, Elisenda
Dobbelaere, Dries
Couce, Maria L.
Sykut-Cegielska, Jolanta
Häberle, Johannes
Lund, Allan M.
Chakrapani, Anupam
Schiff, Manuel
Walter, John H.
Zeman, Jiri
Vara, Roshni
Kölker, Stefan
Jean-Arnoux, B.
Barić, Ivo
Bauchart, Eric
Baumgartner, Matthias R.
Blasco-Alonso, Javier
Cardoso, Maria Teresa
Chabrol, Brigitte
Djordjevic, Maja
Eyskens, Francois
Freisinger, Peter
Gleich, Florian
Gradowska, Wanda
Grünewald, Stephanie
Haege, Gisela
Hwu, Wuh-Liang
Ioannou, Hariklea
Jalan, Anil
Karall, Daniela
de Laet, Corinne
Lindner, Martin
de Lonlay, Pascale
Martinelli, Diego
de Meirleir, Linda
Mention, Karine
Mühlhausen, Chris
Murphy, Elaine
de Baulny, Hélène Ogier
Ortez, Carlos
Peña Quintana, Luis 
Riches, Victoria
Rodrigues, Esmeralda
Sokal, Etienne
Thompson, Nicholas
Wijburg, Frits A.
Williams, Monique
Zielonka, Matthias
UNESCO Clasification: 320610 Enfermedades de la nutrición
Keywords: CIBER OBN
Issue Date: 2016
Journal: Journal of Inherited Metabolic Disease 
Abstract: Background: Patients with urea cycle disorders (UCDs) have an increased risk of neurological disease manifestation. Aims: Determining the effect of diagnostic and therapeutic interventions on the neurological outcome. Methods: Evaluation of baseline, regular follow-up and emergency visits of 456 UCD patients prospectively followed between 2011 and 2015 by the E-IMD patient registry. Results: About two-thirds of UCD patients remained asymptomatic until age 12 days [i.e. the median age at diagnosis of patients identified by newborn screening (NBS)] suggesting a potential benefit of NBS. In fact, NBS lowered the age at diagnosis in patients with late onset of symptoms (>28 days), and a trend towards improved long-term neurological outcome was found for patients with argininosuccinate synthetase and lyase deficiency as well as argininemia identified by NBS. Three to 17 different drug combinations were used for maintenance therapy, but superiority of any single drug or specific drug combination above other combinations was not demonstrated. Importantly, non-interventional variables of disease severity, such as age at disease onset and peak ammonium level of the initial hyperammonemic crisis (cut-off level: 500 μmol/L) best predicted the neurological outcome. Conclusions: Promising results of NBS for late onset UCD patients are reported and should be re-evaluated in a larger and more advanced age group. However, non-interventional variables affect the neurological outcome of UCD patients. Available evidence-based guideline recommendations are currently heterogeneously implemented into practice, leading to a high variability of drug combinations that hamper our understanding of optimised long-term and emergency treatment.
ISSN: 0141-8955
DOI: 10.1007/s10545-016-9938-9
Source: Journal of Inherited Metabolic Disease [ISSN 0141-8955], v. 39 (5), p. 661-672, (Septiembre 2016)
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