Urea cycle disorders in Spain : an observational, cross-sectional and multicentric study of 104 cases
Martín-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid))
Aldámiz-Echevarría, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc))
Castejón-Ponce, Esperanza (H. Sant Joan de Déu)
Pedrón-Giner, Consuelo (H.U. Infantil del Niño Jesús)
Couce, Maria Luz (C.H.U. de Santiago)
Serrano-Nieto, Juliana (H. Materno Infantil Carlos Haya)
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Bélanger-Quintana, Amaya (H.U. Ramón y Cajal)
Martínez-Pardo, Mercedes (H.U. Ramón y Cajal)
García-Silva, María Teresa (Hospital Universitario 12 de Octubre (Madrid))
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid))
Vitoria-Miñana, Isidro (H. Infantil La Fe)
Dalmau, Jaime (H. Infantil La Fe)
Lama-More, Rosa A. (Hospital Universitario La Paz (Madrid))
Bueno-Delgado, María Amor (H.U. Virgen del Rocío)
del Toro-Riera, Mirella (Hospital Universitari Vall d'Hebron)
García Jiménez, Inmaculada (H.U. Miguel Servet)
Sierra-Córcoles, Concepción (C.H. de Jaén)
Ruiz-Pons, Mónica (H.U. Ntra. Sra. de la Candelaria)
Peña-Quintana, Luis J. (H.U. Materno Infantil de Las Palmas)
Vives-Piñera, Inmaculada (H.C.U. Virgen de la Arrixaca)
Moráis, Ana (Hospital Universitario La Paz (Madrid))
Balmaseda-Serrano, Elena (Complejo Hospitalario Universitario de Albacete)
Meavilla, Silvia (Hospital Sant Joan de Déu (Manresa))
Sanjurjo-Crespo, Pablo (H.U. de Cruces, Bilbao)
Pérez-Cerdá, Celia (Universidad Autónoma de Madrid. Centro de Diagnostico de Enfermedades Moleculares-CEDEM)
Universitat Autònoma de Barcelona

Data:	2014
Resum:	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. 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. 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. 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Urea cycle disorders ; UCDs ; N-acetylglutamate synthase ; Carbamoylphosphate synthetase 1 ; Ornithine transcarbamylase ; Argininosuccinate synthetase ; Citrullinemia type 1 ; Argininosuccinate lyase ; Argininosuccinic aciduria ; Arginase 1
Publicat a:	Orphanet Journal of Rare Diseases, Vol. 9 (november 2014) , ISSN 1750-1172

DOI: 10.1186/s13023-014-0187-4
PMID: 25433810

14 p, 413.1 KB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
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