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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. / Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; I Saladelafont, Elisenda Cortès; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H; Williams, Monique; Burgard, Peter.

in: J INHERIT METAB DIS, Jahrgang 38, Nr. 6, 11.2015, S. 1041-1057.

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

Harvard

Kölker, S, Cazorla, AG, Valayannopoulos, V, Lund, AM, Burlina, AB, Sykut-Cegielska, J, Wijburg, FA, Teles, EL, Zeman, J, Dionisi-Vici, C, Barić, I, Karall, D, Augoustides-Savvopoulou, P, Aksglaede, L, Arnoux, J-B, Avram, P, Baumgartner, MR, Blasco-Alonso, J, Chabrol, B, Chakrapani, A, Chapman, K, I Saladelafont, EC, Couce, ML, de Meirleir, L, Dobbelaere, D, Dvorakova, V, Furlan, F, Gleich, F, Gradowska, W, Grünewald, S, Jalan, A, Häberle, J, Haege, G, Lachmann, R, Laemmle, A, Langereis, E, de Lonlay, P, Martinelli, D, Matsumoto, S, Mühlhausen, C, de Baulny, HO, Ortez, C, Peña-Quintana, L, Ramadža, DP, Rodrigues, E, Scholl-Bürgi, S, Sokal, E, Staufner, C, Summar, ML, Thompson, N, Vara, R, Pinera, IV, Walter, JH, Williams, M & Burgard, P 2015, 'The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation', J INHERIT METAB DIS, Jg. 38, Nr. 6, S. 1041-1057. https://doi.org/10.1007/s10545-015-9839-3

APA

Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., ... Burgard, P. (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J INHERIT METAB DIS, 38(6), 1041-1057. https://doi.org/10.1007/s10545-015-9839-3

Vancouver

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J INHERIT METAB DIS. 2015 Nov;38(6):1041-1057. https://doi.org/10.1007/s10545-015-9839-3

Bibtex

@article{e8cbd4fe423845988824ce75f2dc0b8d,
title = "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation",
abstract = "BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only).CONCLUSIONS: The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.",
author = "Stefan K{\"o}lker and Cazorla, {Angeles Garcia} and Vassili Valayannopoulos and Lund, {Allan M} and Burlina, {Alberto B} and Jolanta Sykut-Cegielska and Wijburg, {Frits A} and Teles, {Elisa Le{\~a}o} and Jiri Zeman and Carlo Dionisi-Vici and Ivo Bari{\'c} and Daniela Karall and Persephone Augoustides-Savvopoulou and Lise Aksglaede and Jean-Baptiste Arnoux and Paula Avram and Baumgartner, {Matthias R} and Javier Blasco-Alonso and Brigitte Chabrol and Anupam Chakrapani and Kimberly Chapman and {I Saladelafont}, {Elisenda Cort{\`e}s} and Couce, {Maria L} and {de Meirleir}, Linda and Dries Dobbelaere and Veronika Dvorakova and Francesca Furlan and Florian Gleich and Wanda Gradowska and Stephanie Gr{\"u}newald and Anil Jalan and Johannes H{\"a}berle and Gisela Haege and Robin Lachmann and Alexander Laemmle and Eveline Langereis and {de Lonlay}, Pascale and Diego Martinelli and Shirou Matsumoto and Chris M{\"u}hlhausen and {de Baulny}, {H{\'e}l{\`e}ne Ogier} and Carlos Ortez and Luis Pe{\~n}a-Quintana and Ramad{\v z}a, {Danijela Petkovi{\'c}} and Esmeralda Rodrigues and Sabine Scholl-B{\"u}rgi and Etienne Sokal and Christian Staufner and Summar, {Marshall L} and Nicholas Thompson and Roshni Vara and Pinera, {Inmaculada Vives} and Walter, {John H} and Monique Williams and Peter Burgard",
year = "2015",
month = nov,
doi = "10.1007/s10545-015-9839-3",
language = "English",
volume = "38",
pages = "1041--1057",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

RIS

TY - JOUR

T1 - The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

AU - Kölker, Stefan

AU - Cazorla, Angeles Garcia

AU - Valayannopoulos, Vassili

AU - Lund, Allan M

AU - Burlina, Alberto B

AU - Sykut-Cegielska, Jolanta

AU - Wijburg, Frits A

AU - Teles, Elisa Leão

AU - Zeman, Jiri

AU - Dionisi-Vici, Carlo

AU - Barić, Ivo

AU - Karall, Daniela

AU - Augoustides-Savvopoulou, Persephone

AU - Aksglaede, Lise

AU - Arnoux, Jean-Baptiste

AU - Avram, Paula

AU - Baumgartner, Matthias R

AU - Blasco-Alonso, Javier

AU - Chabrol, Brigitte

AU - Chakrapani, Anupam

AU - Chapman, Kimberly

AU - I Saladelafont, Elisenda Cortès

AU - Couce, Maria L

AU - de Meirleir, Linda

AU - Dobbelaere, Dries

AU - Dvorakova, Veronika

AU - Furlan, Francesca

AU - Gleich, Florian

AU - Gradowska, Wanda

AU - Grünewald, Stephanie

AU - Jalan, Anil

AU - Häberle, Johannes

AU - Haege, Gisela

AU - Lachmann, Robin

AU - Laemmle, Alexander

AU - Langereis, Eveline

AU - de Lonlay, Pascale

AU - Martinelli, Diego

AU - Matsumoto, Shirou

AU - Mühlhausen, Chris

AU - de Baulny, Hélène Ogier

AU - Ortez, Carlos

AU - Peña-Quintana, Luis

AU - Ramadža, Danijela Petković

AU - Rodrigues, Esmeralda

AU - Scholl-Bürgi, Sabine

AU - Sokal, Etienne

AU - Staufner, Christian

AU - Summar, Marshall L

AU - Thompson, Nicholas

AU - Vara, Roshni

AU - Pinera, Inmaculada Vives

AU - Walter, John H

AU - Williams, Monique

AU - Burgard, Peter

PY - 2015/11

Y1 - 2015/11

N2 - BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only).CONCLUSIONS: The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

AB - BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only).CONCLUSIONS: The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

U2 - 10.1007/s10545-015-9839-3

DO - 10.1007/s10545-015-9839-3

M3 - SCORING: Journal article

C2 - 25875215

VL - 38

SP - 1041

EP - 1057

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 6

ER -