RT Journal Article
T1 Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
A1 Martín-Hernández, Elena
A1 Aldámiz-Echevarría, Luis
A1 Castejón-Ponce, Esperanza
A1 Pedrón-Giner, Consuelo
A1 Couce, María Luz
A1 Serrano-Nieto, Juliana
A1 Pintos-Morell, Guillem
A1 Bélanger-Quintana, Amaya
A1 Martínez-Pardo, Mercedes
A1 García-Silva, María Teresa
A1 Quijada-Fraile, Pilar
A1 Vitoria-Miñana, Isidro
A1 Dalmau, Jaime
A1 Lama-More, Rosa A
A1 Bueno-Delgado, María Amor
A1 Del Toro-Riera, Mirella
A1 García-Jiménez, Inmaculada
A1 Sierra-Córcoles, Concepción
A1 Ruiz-Pons, Mónica
A1 Peña-Quintana, Luis J
A1 Vives-Piñera, Inmaculada
A1 Moráis, Ana
A1 Balmaseda-Serrano, Elena
A1 Meavilla, Silvia
A1 Sanjurjo-Crespo, Pablo
A1 Pérez-Cerdá, Celia
K1 Urea cycle disorders
K1 UCDs
K1 N-acetylglutamate synthase
K1 Carbamoylphosphate synthase 1
K1 Ornithine transcarbamylase
K1 Argininosuccinate synthetase
K1 Citrullinemia type 1
K1 Argininosuccinate lyase
K1 Argininosuccinic
K1 Arginase 1
K1 Trastornos innatos del ciclo de la urea
K1 España
K1 Estudios transversales
AB 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.MethodsObservational, 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.Results104 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.ConclusionsStudies 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.
PB Biomed Central
YR 2014
FD 2014-11-30
LK http://hdl.handle.net/10668/2678
UL http://hdl.handle.net/10668/2678
LA en
NO 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.
DS RISalud
RD Apr 12, 2025