Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/49363
Título: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Autores/as: 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
Clasificación UNESCO: 32 Ciencias médicas
3205 Medicina interna
Palabras clave: Urea cycle disorders
UCDs
N-acetylglutamate synthase
Carbamoylphosphate synthetase 1
Ornithine transcarbamylase, et al.
Fecha de publicación: 2014
Publicación seriada: Orphanet Journal of Rare Diseases 
Resumen: 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.
URI: http://hdl.handle.net/10553/49363
ISSN: 1750-1172
DOI: 10.1186/s13023-014-0187-4
Fuente: Orphanet journal of rare diseases [ISSN 1750-1172],v. 9(1):187 (Noviembre 2014)
Colección:Artículos
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