Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry
Year: 2026
Type: article
Study design: Observational Study
Abstract: Urea cycle disorders (UCDs) are rare inherited metabolic diseases associated with toxic hyperammonemia, leading to severe neurological damage and early mortality. Early diagnosis of distal UCDs through newborn screening (NBS) enables presymptomatic intervention; however, comparative real-world outcome data remain limited. We conducted a retrospective, multicenter study using data from the Spanish UCD Registry to describe the clinical characteristics and compare health outcomes between patients diagnosed through NBS (n = 40) and those diagnosed after clinical presentation (n = 53). Patients identified by NBS showed a markedly more favorable clinical prognosis, with a mortality rate of 2.5% compared with 15.1% in the unscreened cohort, as well as significantly lower rates of neurological involvement, fewer hospital admissions due to metabolic decompensation, and a reduced need for liver transplantation. Screening also identified a high prevalence of argininosuccinate synthetase deficiency (ASS1D) cases with attenuated biochemical profiles, highlighting the relevance of sensitive screening cutoffs. These findings provide real-world evidence that presymptomatic diagnosis through NBS is associated with improved survival and long-term neurological outcomes in patients with distal UCDs.
DOI: 10.3390/ijns12020044
Authors: Raquel Yahyaoui, Pilar Quijada-Fraile, Javier Blasco-Alonso, Inmaculada Vives, David Gil Ortega, Maria-Luz Couce, Paula Sánchez-Pintos, M. Concepción García Jiménez, Silvia Meavilla Olivas, Camila García Volpe, Mariela de los Santos Mercedes, Ángels García-Cazorla, Ana Felipe-Rucián, Lucy Dougherty-de Miguel, Ana Morais López, Ana Bergua Martínez, José David Andrade Guerrero, Sinziana Stanescu, Amaya Belanger, Mercedes Gil-Campos, María José Comino Monroy, Marcello Bellusci, Patricia Pérez-Mohand, Delia Barrio-Carreras, Belén Pérez, Elena Martín-Hernández
Institutions: Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga, Universidad Europea de Andalucía, Research Institute Hospital 12 de Octubre, Hospital Universitario 12 De Octubre, Centre for Biomedical Network Research on Rare Diseases, Universidad de Málaga, Hospital Universitario Virgen de la Arrixaca, Instituto de Investigación Sanitaria de Santiago, Hospital Universitario Miguel Servet, Hospital Sant Joan de Déu Barcelona, Vall d'Hebron Institut de Recerca, Vall d'Hebron Hospital Universitari, Hospital Universitario La Paz, Hospital Universitario Ramón y Cajal, Instituto Maimónides de Investigación Biomédica de Córdoba, Hospital Universitario Reina Sofía, University of Córdoba
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,930
OpenAlex ID: W7165126285
FWCI:
Cites:
Cited by:
Related to: