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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. / Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; 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; additional individual contributors of the E-IMD consortium.

in: J INHERIT METAB DIS, Jahrgang 39, Nr. 5, 01.09.2016, S. 661-72.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Posset, R, Garcia-Cazorla, A, Valayannopoulos, V, Teles, EL, Dionisi-Vici, C, Brassier, A, Burlina, AB, Burgard, P, Cortès-Saladelafont, E, Dobbelaere, D, Couce, ML, Sykut-Cegielska, J, Häberle, J, Lund, AM, Chakrapani, A, Schiff, M, Walter, JH, Zeman, J, Vara, R, Kölker, S & additional individual contributors of the E-IMD consortium 2016, 'Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders', J INHERIT METAB DIS, Jg. 39, Nr. 5, S. 661-72. https://doi.org/10.1007/s10545-016-9938-9

APA

Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Teles, E. L., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., ... additional individual contributors of the E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J INHERIT METAB DIS, 39(5), 661-72. https://doi.org/10.1007/s10545-016-9938-9

Vancouver

Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A et al. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J INHERIT METAB DIS. 2016 Sep 1;39(5):661-72. https://doi.org/10.1007/s10545-016-9938-9

Bibtex

@article{4dfd8df900904dc2bc8ef81b5d07f9c2,
title = "Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders",
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.",
author = "Roland Posset and Angeles Garcia-Cazorla and Vassili Valayannopoulos and Teles, {Elisa Le{\~a}o} and Carlo Dionisi-Vici and Ana{\"i}s Brassier and Burlina, {Alberto B} and Peter Burgard and Elisenda Cort{\`e}s-Saladelafont and Dries Dobbelaere and Couce, {Maria L} and Jolanta Sykut-Cegielska and Johannes H{\"a}berle and Lund, {Allan M} and Anupam Chakrapani and Manuel Schiff and Walter, {John H} and Jiri Zeman and Roshni Vara and Stefan K{\"o}lker and {additional individual contributors of the E-IMD consortium}",
year = "2016",
month = sep,
day = "1",
doi = "10.1007/s10545-016-9938-9",
language = "English",
volume = "39",
pages = "661--72",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "5",

}

RIS

TY - JOUR

T1 - Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

AU - Posset, Roland

AU - Garcia-Cazorla, Angeles

AU - Valayannopoulos, Vassili

AU - Teles, Elisa Leão

AU - Dionisi-Vici, Carlo

AU - Brassier, Anaïs

AU - Burlina, Alberto B

AU - Burgard, Peter

AU - Cortès-Saladelafont, Elisenda

AU - Dobbelaere, Dries

AU - Couce, Maria L

AU - Sykut-Cegielska, Jolanta

AU - Häberle, Johannes

AU - Lund, Allan M

AU - Chakrapani, Anupam

AU - Schiff, Manuel

AU - Walter, John H

AU - Zeman, Jiri

AU - Vara, Roshni

AU - Kölker, Stefan

AU - additional individual contributors of the E-IMD consortium

PY - 2016/9/1

Y1 - 2016/9/1

N2 - 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.

AB - 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.

U2 - 10.1007/s10545-016-9938-9

DO - 10.1007/s10545-016-9938-9

M3 - SCORING: Journal article

C2 - 27106216

VL - 39

SP - 661

EP - 672

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 5

ER -