Please use this identifier to cite or link to this item:
Title: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Authors: Martín-Hernández, Elena
Aldámiz-Echevarría, Luis
Castejón-Ponce, Esperanza
Pedrón-Giner, Consuelo
Couce, María Luz
Serrano-Nieto, Juliana
Pintos-Morell, Guillem
Bélanger-Quintana, Amaya
Martínez-Pardo, Mercedes
García-Silva, María Teresa
Quijada-Fraile, Pilar
Vitoria-Miñana, Isidro
Dalmau, Jaime
Lama-More, Rosa A
Bueno-Delgado, María Amor
Del Toro-Riera, Mirella
García-Jiménez, Inmaculada
Sierra-Córcoles, Concepción
Ruiz-Pons, Mónica
Peña-Quintana, Luis J
Vives-Piñera, Inmaculada
Moráis, Ana
Balmaseda-Serrano, Elena
Meavilla, Silvia
Sanjurjo-Crespo, Pablo
Pérez-Cerdá, Celia
metadata.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.
Keywords: Urea cycle disorders;UCDs;N-acetylglutamate synthase;Carbamoylphosphate synthase 1;Ornithine transcarbamylase;Argininosuccinate synthetase;Citrullinemia type 1;Argininosuccinate lyase;Argininosuccinic;Arginase 1;Trastornos innatos del ciclo de la urea;España;Estudios transversales
metadata.dc.subject.mesh: Medical Subject Headings::Persons::Persons::Age Groups::Adolescent
Medical Subject Headings::Persons::Persons::Age Groups::Adult
Medical Subject Headings::Persons::Persons::Age Groups::Child
Medical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschool
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Persons::Persons::Age Groups::Infant
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spain
Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors
Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult
Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spain
Issue Date: 30-Nov-2014
Publisher: Biomed Central
Citation: Martín-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.
Abstract: 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.
metadata.dc.identifier.doi: 10.1186/s13023-014-0187-4
ISSN: 1750-1172 (Online)
Appears in Collections:01- Artículos - Complejo Hospitalario de Jaén
01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen del Rocío

Files in This Item:
File Description SizeFormat 
MartinHernandez_UreaCycle.pdfArtículo publicado539,21 kBAdobe PDFView/Open

This item is protected by original copyright

This item is licensed under a Creative Commons License Creative Commons