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Pregled bibliografske jedinice broj: 1264805

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

(E-IMD) 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 et al.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation // Journal of Inherited Metabolic Disease, 38 (2015), 6; 1041-1057 doi:10.1007/s10545-015-9839-3 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1264805 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

Autori
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

Kolaboracija
E-IMD

Izvornik
Journal of Inherited Metabolic Disease (0141-8955) 38 (2015), 6; 1041-1057

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
organic acidurias, urea cycle disorders, registry, phenotype

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Danijela Petković-Ramadža (autor)

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi pubmed.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

(E-IMD) 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 et al.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation // Journal of Inherited Metabolic Disease, 38 (2015), 6; 1041-1057 doi:10.1007/s10545-015-9839-3 (međunarodna recenzija, članak, znanstveni)
(E-IMD) (E-IMD) Kölker, S., Cazorla, A., Valayannopoulos, V., Lund, A., Burlina, A., Sykut-Cegielska, J., Wijburg, F., Teles, E., Zeman, J. & Dionisi-Vici, C. (2015) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Journal of Inherited Metabolic Disease, 38 (6), 1041-1057 doi:10.1007/s10545-015-9839-3.
@article{article, author = {K\"{o}lker, Stefan and Cazorla, Angeles Garcia and Valayannopoulos, Vassili and Lund, Allan M. and Burlina, Alberto B. and Sykut-Cegielska, Jolanta and Wijburg, Frits A. and Teles, Elisa Le\~{a}o and Zeman, Jiri and Dionisi-Vici, Carlo and Bari\'{c}, Ivo and Karall, Daniela and Augoustides-Savvopoulou, Persephone and Aksglaede, Lise and Arnoux, Jean-Baptiste and Avram, Paula and Baumgartner, Matthias R. and Blasco-Alonso, Javier and Chabrol, Brigitte and Chakrapani, Anupam and Chapman, Kimberly and i Saladelafont, Elisenda Cort\`{e}s and Couce, Maria L. and de Meirleir, Linda and Dobbelaere, Dries and Dvorakova, Veronika and Furlan, Francesca and Gleich, Florian and Gradowska, Wanda and Gr\"{u}newald, Stephanie and Jalan, Anil and H\"{a}berle, Johannes and Haege, Gisela and Lachmann, Robin and Laemmle, Alexander and Langereis, Eveline and de Lonlay, Pascale and Martinelli, Diego and Matsumoto, Shirou and M\"{u}hlhausen, Chris and de Baulny, H\'{e}l\`{e}ne Ogier and Ortez, Carlos and Pe\~{n}a-Quintana, Luis and Ramad\v{z}a, Danijela Petkovi\'{c} and Rodrigues, Esmeralda and Scholl-B\"{u}rgi, Sabine and Sokal, Etienne and Staufner, Christian and Summar, Marshall L. and Thompson, Nicholas and Vara, Roshni and Pinera, Inmaculada Vives and Walter, John H. and Williams, Monique and Burgard, Peter}, year = {2015}, pages = {1041-1057}, DOI = {10.1007/s10545-015-9839-3}, keywords = {organic acidurias, urea cycle disorders, registry, phenotype}, journal = {Journal of Inherited Metabolic Disease}, doi = {10.1007/s10545-015-9839-3}, volume = {38}, number = {6}, issn = {0141-8955}, title = {The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation}, keyword = {organic acidurias, urea cycle disorders, registry, phenotype} }
@article{article, author = {K\"{o}lker, Stefan and Cazorla, Angeles Garcia and Valayannopoulos, Vassili and Lund, Allan M. and Burlina, Alberto B. and Sykut-Cegielska, Jolanta and Wijburg, Frits A. and Teles, Elisa Le\~{a}o and Zeman, Jiri and Dionisi-Vici, Carlo and Bari\'{c}, Ivo and Karall, Daniela and Augoustides-Savvopoulou, Persephone and Aksglaede, Lise and Arnoux, Jean-Baptiste and Avram, Paula and Baumgartner, Matthias R. and Blasco-Alonso, Javier and Chabrol, Brigitte and Chakrapani, Anupam and Chapman, Kimberly and i Saladelafont, Elisenda Cort\`{e}s and Couce, Maria L. and de Meirleir, Linda and Dobbelaere, Dries and Dvorakova, Veronika and Furlan, Francesca and Gleich, Florian and Gradowska, Wanda and Gr\"{u}newald, Stephanie and Jalan, Anil and H\"{a}berle, Johannes and Haege, Gisela and Lachmann, Robin and Laemmle, Alexander and Langereis, Eveline and de Lonlay, Pascale and Martinelli, Diego and Matsumoto, Shirou and M\"{u}hlhausen, Chris and de Baulny, H\'{e}l\`{e}ne Ogier and Ortez, Carlos and Pe\~{n}a-Quintana, Luis and Ramad\v{z}a, Danijela Petkovi\'{c} and Rodrigues, Esmeralda and Scholl-B\"{u}rgi, Sabine and Sokal, Etienne and Staufner, Christian and Summar, Marshall L. and Thompson, Nicholas and Vara, Roshni and Pinera, Inmaculada Vives and Walter, John H. and Williams, Monique and Burgard, Peter}, year = {2015}, pages = {1041-1057}, DOI = {10.1007/s10545-015-9839-3}, keywords = {organic acidurias, urea cycle disorders, registry, phenotype}, journal = {Journal of Inherited Metabolic Disease}, doi = {10.1007/s10545-015-9839-3}, volume = {38}, number = {6}, issn = {0141-8955}, title = {The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation}, keyword = {organic acidurias, urea cycle disorders, registry, phenotype} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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