Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/2678
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dc.contributor.authorMartín-Hernández, Elena-
dc.contributor.authorAldámiz-Echevarría, Luis-
dc.contributor.authorCastejón-Ponce, Esperanza-
dc.contributor.authorPedrón-Giner, Consuelo-
dc.contributor.authorCouce, María Luz-
dc.contributor.authorSerrano-Nieto, Juliana-
dc.contributor.authorPintos-Morell, Guillem-
dc.contributor.authorBélanger-Quintana, Amaya-
dc.contributor.authorMartínez-Pardo, Mercedes-
dc.contributor.authorGarcía-Silva, María Teresa-
dc.contributor.authorQuijada-Fraile, Pilar-
dc.contributor.authorVitoria-Miñana, Isidro-
dc.contributor.authorDalmau, Jaime-
dc.contributor.authorLama-More, Rosa A-
dc.contributor.authorBueno-Delgado, María Amor-
dc.contributor.authorDel Toro-Riera, Mirella-
dc.contributor.authorGarcía-Jiménez, Inmaculada-
dc.contributor.authorSierra-Córcoles, Concepción-
dc.contributor.authorRuiz-Pons, Mónica-
dc.contributor.authorPeña-Quintana, Luis J-
dc.contributor.authorVives-Piñera, Inmaculada-
dc.contributor.authorMoráis, Ana-
dc.contributor.authorBalmaseda-Serrano, Elena-
dc.contributor.authorMeavilla, Silvia-
dc.contributor.authorSanjurjo-Crespo, Pablo-
dc.contributor.authorPérez-Cerdá, Celia-
dc.date.accessioned2017-05-26T12:28:05Z-
dc.date.available2017-05-26T12:28:05Z-
dc.date.issued2014-11-30-
dc.identifier.citationMartín-Hernandez E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto,J et al. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. Orphanet J Rare Dis. 2014;9:187.es_ES
dc.identifier.issn1750-1172 (Online)es_ES
dc.identifier.otherPMC4258263es_ES
dc.identifier.urihttp://hdl.handle.net/10668/2678-
dc.description.abstractBackground: Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain.Methods Observational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients with UCDs, treated in the metabolic diseases centers in Spain between February 2012 and February 2013, covering the entire Spanish population. Heterozygous mothers of patients with OTC deficiency were only included if they were on treatment due to being symptomatic or having biochemistry abnormalities. Results 104 patients from 98 families were included. Ornithine transcarbamylase deficiency was the most frequent condition (64.4%) (61.2% female) followed by type 1 citrullinemia (21.1%) and argininosuccinic aciduria (9.6%). Only 13 patients (12.5%) were diagnosed in a pre-symptomatic state. 63% of the cases presented with type intoxication encephalopathy. The median ammonia level at onset was 298 μmol/L (169-615). The genotype of 75 patients is known, with 18 new mutations having been described. During the data collection period four patients died, three of them in the early days of life. The median current age is 9.96 years (5.29-18), with 25 patients over 18 years of age. Anthropometric data, expressed as median and z-score for the Spanish population is shown. 52.5% of the cases present neurological sequelae, which have been linked to the type of disease, neonatal onset, hepatic failure at diagnosis and ammonia values at diagnosis. 93 patients are following a protein restrictive diet, 0.84 g/kg/day (0.67-1.10), 50 are receiving essential amino acid supplements, 0.25 g/kg/day (0.20-0.45), 58 arginine, 156 mg/kg/day (109-305) and 45 citrulline, 150 mg/kg/day (105-199). 65 patients are being treated with drugs: 4 with sodium benzoate, 50 with sodium phenylbutyrate, 10 with both drugs and 1 with carglumic acid. Conclusions Studies like this make it possible to analyze the frequency, natural history and clinical practices in the area of rare diseases, with the purpose of knowing the needs of the patients and thus planning their care.es_ES
dc.language.isoenes_ES
dc.publisherBiomed Centrales_ES
dc.relation.ispartofOrphanet Journal of Rare Diseaseses_ES
dc.subjectUrea cycle disorderses_ES
dc.subjectUCDses_ES
dc.subjectN-acetylglutamate synthasees_ES
dc.subjectCarbamoylphosphate synthase 1es_ES
dc.subjectOrnithine transcarbamylasees_ES
dc.subjectArgininosuccinate synthetasees_ES
dc.subjectCitrullinemia type 1es_ES
dc.subjectArgininosuccinate lyasees_ES
dc.subjectArgininosuccinices_ES
dc.subjectArginase 1es_ES
dc.subjectTrastornos innatos del ciclo de la ureaes_ES
dc.subjectEspañaes_ES
dc.subjectEstudios transversaleses_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Adolescentes_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Adultes_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Childes_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschooles_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studieses_ES
dc.subject.meshMedical Subject Headings::Check Tags::Femalees_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Infantes_ES
dc.subject.meshMedical Subject Headings::Check Tags::Malees_ES
dc.subject.meshMedical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spaines_ES
dc.subject.meshMedical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errorses_ES
dc.subject.meshMedical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adultes_ES
dc.subject.meshMedical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spaines_ES
dc.titleUrea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 caseses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.description.versionYeses_ES
dc.identifier.pmid25433810es_ES
dc.rights.accessRightsAcceso abiertoes_ES
dc.identifier.doi10.1186/s13023-014-0187-4es_ES
dc.type.versioninfo:eu-repo/semantics/publishedes_ES
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0187-4es_ES
dc.contributor.authoraffiliation[Martín-Hernández,E; García-Silva,MT; Quijada Fraile,P] Pediatric Rares Diseases Unit, Metabolic and Mitochondrial Diseases, Pediatric Department, Hospital Universitario 12 de Octubre. Research Institute (i +12), Madrid, Spain. [Aldáiz-Echevarría,L: Sanjurjo-Crespo,P] H.U. de Cruces, Bilbao, Spain. [Castejón-Ponce,E; Meavilla,S] H. Sant Joan de Déu, Barcelona, Spain. [Pedrón-Giner,C] H.U. Infantil del Niño Jesús, Madrid, Spain. [Couce,ML] C.H.U. de Santiago, Santiago de Compostela, Spain. [Serrano-Nieto,J] H. Materno Infantil Carlos Haya, Málaga, Spain. [Pintos-Morell,G] H.U. Germans Trias i Pujol, Badalona, Spain. [Bélanger-Quintana,A; Martínez-Pardo,M] H.U. Ramón y Cajal, Madrid, Spain. [Vitoria-Miñana,I; Dalmau,J] H. Infantil La Fe, Valencia, Spain. [Lama-More, RA; Moráis,A] H.U. La Paz, Madrid, Spain. [Bueno-Delgado,MA] H.U. Virgen del Rocío, Sevilla, Spain. [del Toro-Riera-M] H. Vall d’Hebrón, Barcelona, Spain. [García-Jiménez,I] H.U. Miguel Servet, Zaragoza, Spain. [Sierra-Córcoles,C] C.H. de Jaén, Jaén, Spain. [Ruiz-Pons,M] H.U. Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain. [Peña-Quintana,LJ] H.U. Materno Infantil de Las Palmas, Las Palmas de Gran Canaria, Spain. [Vives-Piñera,I]H.C.U. Virgen de la Arrixaca, Murcia, Spain. [Balmaseda-Serrano,E] C.H.U. de Albacete, Albacete, Spain. [Pérez-Cerdá,C] CEDEM. Facultad de Ciencias, Universidad Autónoma de Madrid, Madrid, Spain.es_ES
dc.type.subtypeArtículo originales_ES
Appears in Collections:01- Artículos - Complejo Hospitalario de Jaén
01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen del Rocío

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