Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/49354
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dc.contributor.authorKölker, Stefanen_US
dc.contributor.authorCazorla, Angeles Garciaen_US
dc.contributor.authorValayannopoulos, Vassilien_US
dc.contributor.authorLund, Allan M.en_US
dc.contributor.authorBurlina, Alberto B.en_US
dc.contributor.authorSykut-Cegielska, Jolantaen_US
dc.contributor.authorWijburg, Frits A.en_US
dc.contributor.authorTeles, Elisa Leãoen_US
dc.contributor.authorZeman, Jirien_US
dc.contributor.authorDionisi-Vici, Carloen_US
dc.contributor.authorBarić, Ivoen_US
dc.contributor.authorKarall, Danielaen_US
dc.contributor.authorAugoustides-Savvopoulou, Persephoneen_US
dc.contributor.authorAksglaede, Liseen_US
dc.contributor.authorArnoux, Jean Baptisteen_US
dc.contributor.authorAvram, Paulaen_US
dc.contributor.authorBaumgartner, Matthias R.en_US
dc.contributor.authorBlasco-Alonso, Javieren_US
dc.contributor.authorChabrol, Brigitteen_US
dc.contributor.authorChakrapani, Anupamen_US
dc.contributor.authorChapman, Kimberlyen_US
dc.contributor.authori Saladelafont, Elisenda Cortèsen_US
dc.contributor.authorCouce, Maria L.en_US
dc.contributor.authorde Meirleir, Lindaen_US
dc.contributor.authorDobbelaere, Driesen_US
dc.contributor.authorDvorakova, Veronikaen_US
dc.contributor.authorFurlan, Francescaen_US
dc.contributor.authorGleich, Florianen_US
dc.contributor.authorGradowska, Wandaen_US
dc.contributor.authorGrünewald, Stephanieen_US
dc.contributor.authorJalan, Anilen_US
dc.contributor.authorHäberle, Johannesen_US
dc.contributor.authorHaege, Giselaen_US
dc.contributor.authorLachmann, Robinen_US
dc.contributor.authorLaemmle, Alexanderen_US
dc.contributor.authorLangereis, Evelineen_US
dc.contributor.authorde Lonlay, Pascaleen_US
dc.contributor.authorMartinelli, Diegoen_US
dc.contributor.authorMatsumoto, Shirouen_US
dc.contributor.authorMühlhausen, Chrisen_US
dc.contributor.authorde Baulny, Hélène Ogieren_US
dc.contributor.authorOrtez, Carlosen_US
dc.contributor.authorPeña-Quintana, Luisen_US
dc.contributor.authorRamadža, Danijela Petkovićen_US
dc.contributor.authorRodrigues, Esmeraldaen_US
dc.contributor.authorScholl-Bürgi, Sabineen_US
dc.contributor.authorSokal, Etienneen_US
dc.contributor.authorStaufner, Christianen_US
dc.contributor.authorSummar, Marshall L.en_US
dc.contributor.authorThompson, Nicholasen_US
dc.contributor.authorVara, Roshnien_US
dc.contributor.authorPinera, Inmaculada Vivesen_US
dc.contributor.authorWalter, John H.en_US
dc.contributor.authorWilliams, Moniqueen_US
dc.contributor.authorBurgard, Peteren_US
dc.date.accessioned2018-11-24T06:40:33Z-
dc.date.available2018-11-24T06:40:33Z-
dc.date.issued2015en_US
dc.identifier.issn0141-8955en_US
dc.identifier.urihttp://hdl.handle.net/10553/49354-
dc.description.abstractBackground 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.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Inherited Metabolic Diseaseen_US
dc.sourceJournal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38, p. 1041-1057 8Abril 2015)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320110 Pediatríaen_US
dc.subject241108 Metabolismo humanoen_US
dc.subject.otherBlood-Brain-Barrieren_US
dc.subject.otherMethylmalonic Aciduriaen_US
dc.subject.otherDehydrogenase-Deficiencyen_US
dc.subject.otherPropionic Aciduriaen_US
dc.subject.otherHead Circumferenceen_US
dc.subject.otherGlutaryl-Coenzymeen_US
dc.subject.otherNatural-Historyen_US
dc.subject.otherClinical-Courseen_US
dc.subject.otherManagementen_US
dc.subject.otherDiagnosisen_US
dc.titleThe phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/s10545-015-9839-3en_US
dc.identifier.scopus84945446745-
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dc.description.lastpage1057en_US
dc.description.firstpage1041en_US
dc.relation.volume38en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
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dc.description.numberofpages17en_US
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dc.contributor.wosstandardWOS:Kolker, S-
dc.contributor.wosstandardWOS:Cazorla, AG-
dc.contributor.wosstandardWOS:Valayannopoulos, V-
dc.contributor.wosstandardWOS:Lund, AM-
dc.contributor.wosstandardWOS:Burlina, AB-
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dc.contributor.wosstandardWOS:Zeman, J-
dc.contributor.wosstandardWOS:Dionisi-Vici, C-
dc.contributor.wosstandardWOS:Baric, I-
dc.contributor.wosstandardWOS:Karall, D-
dc.contributor.wosstandardWOS:Augoustides-Savvopoulou, P-
dc.contributor.wosstandardWOS:Aksglaede, L-
dc.contributor.wosstandardWOS:Arnoux, JB-
dc.contributor.wosstandardWOS:Avram, P-
dc.contributor.wosstandardWOS:Baumgartner, MR-
dc.contributor.wosstandardWOS:Blasco-Alonso, J-
dc.contributor.wosstandardWOS:Chabrol, B-
dc.contributor.wosstandardWOS:Chakrapani, A-
dc.contributor.wosstandardWOS:Chapman, K-
dc.contributor.wosstandardWOS:Saladelafont, ECI-
dc.contributor.wosstandardWOS:Couce, ML-
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dc.contributor.wosstandardWOS:de Lonlay, P-
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dc.contributor.wosstandardWOS:Matsumoto, S-
dc.contributor.wosstandardWOS:Muhlhausen, C-
dc.contributor.wosstandardWOS:de Baulny, HO-
dc.contributor.wosstandardWOS:Ortez, C-
dc.contributor.wosstandardWOS:Pena-Quintana, L-
dc.contributor.wosstandardWOS:Ramadza, DP-
dc.contributor.wosstandardWOS:Rodrigues, E-
dc.contributor.wosstandardWOS:Scholl-Burgi, S-
dc.contributor.wosstandardWOS:Sokal, E-
dc.contributor.wosstandardWOS:Staufner, C-
dc.contributor.wosstandardWOS:Summar, ML-
dc.contributor.wosstandardWOS:Thompson, N-
dc.contributor.wosstandardWOS:Vara, R-
dc.contributor.wosstandardWOS:Pinera, IV-
dc.contributor.wosstandardWOS:Walter, JH-
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dc.date.coverdateAbril 2015en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,395-
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dc.description.scieSCIE-
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
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