Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/49363
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dc.contributor.authorMartín-Hernández, Elenaen_US
dc.contributor.authorAldámiz-Echevarría, Luisen_US
dc.contributor.authorCastejón-Ponce, Esperanzaen_US
dc.contributor.authorPedrón-Giner, Consueloen_US
dc.contributor.authorCouce, María Luzen_US
dc.contributor.authorSerrano-Nieto, Julianaen_US
dc.contributor.authorPintos-Morell, Guillemen_US
dc.contributor.authorBélanger-Quintana, Amayaen_US
dc.contributor.authorMartínez-Pardo, Mercedesen_US
dc.contributor.authorGarcía-Silva, María Teresaen_US
dc.contributor.authorQuijada-Fraile, Pilaren_US
dc.contributor.authorVitoria-Miñana, Isidroen_US
dc.contributor.authorDalmau, Jaimeen_US
dc.contributor.authorLama-More, Rosa A.en_US
dc.contributor.authorBueno-Delgado, María Amoren_US
dc.contributor.authorDel Toro-Riera, Mirellaen_US
dc.contributor.authorGarcía-Jiménez, Inmaculadaen_US
dc.contributor.authorSierra-Córcoles, Concepciónen_US
dc.contributor.authorRuiz-Pons, Mónicaen_US
dc.contributor.authorPeña-Quintana, Luis J.en_US
dc.contributor.authorVives-Piñera, Inmaculadaen_US
dc.contributor.authorMoráis, Anaen_US
dc.contributor.authorBalmaseda-Serrano, Elenaen_US
dc.contributor.authorMeavilla, Silviaen_US
dc.contributor.authorSanjurjo-Crespo, Pabloen_US
dc.contributor.authorPérez-Cerdá, Celiaen_US
dc.date.accessioned2018-11-24T06:45:06Z-
dc.date.available2018-11-24T06:45:06Z-
dc.date.issued2014en_US
dc.identifier.issn1750-1172en_US
dc.identifier.urihttp://hdl.handle.net/10553/49363-
dc.description.abstractAbstract Background: 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. Keywords: Urea cycle disorders, UCDs, N-acetylglutamate synthase, Carbamoylphosphate synthetase 1, Ornithine transcarbamylase, Argininosuccinate synthetase, Citrullinemia type 1, Argininosuccinate lyase, Argininosuccinic aciduria, Arginase 1en_US
dc.languageengen_US
dc.relation.ispartofOrphanet Journal of Rare Diseasesen_US
dc.sourceOrphanet journal of rare diseases [ISSN 1750-1172],v. 9(1), p. 187en_US
dc.subject3205 Medicina internaen_US
dc.titleUrea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 casesen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1186/s13023-014-0187-4en_US
dc.identifier.scopus84964696862-
dc.contributor.authorscopusid6603425207-
dc.contributor.authorscopusid6603581047-
dc.contributor.authorscopusid6507010111-
dc.contributor.authorscopusid6602499591-
dc.contributor.authorscopusid7003683107-
dc.contributor.authorscopusid36926336800-
dc.contributor.authorscopusid57204888203-
dc.contributor.authorscopusid6602210294-
dc.contributor.authorscopusid7003570900-
dc.contributor.authorscopusid35496557600-
dc.contributor.authorscopusid36706618500-
dc.contributor.authorscopusid6701451604-
dc.contributor.authorscopusid7101901828-
dc.contributor.authorscopusid6701745486-
dc.contributor.authorscopusid36545657400-
dc.contributor.authorscopusid23099070900-
dc.contributor.authorscopusid6507514141-
dc.contributor.authorscopusid56488019600-
dc.contributor.authorscopusid16639901400-
dc.contributor.authorscopusid6603266503-
dc.contributor.authorscopusid51562700400-
dc.contributor.authorscopusid16316731700-
dc.contributor.authorscopusid8604915900-
dc.contributor.authorscopusid36925604500-
dc.contributor.authorscopusid55664847200-
dc.contributor.authorscopusid6603860348-
dc.description.lastpage187en_US
dc.description.firstpage187en_US
dc.relation.volume9en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.utils.revisionen_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,745
dc.description.jcr3,358
dc.description.sjrqQ1
dc.description.jcrqQ2
dc.description.scieSCIE
item.fulltextCon texto completo-
item.grantfulltextopen-
crisitem.author.deptNutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptCiencias Clínicas-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
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