Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

ConclusionsAnalysis of Asx and Asx/Sym females with OTCD in this study suggests that future evidence-based management guidelines and/or a clinical risk score calculator for this cohort could be useful management tools to reduce morbidity and improve long-term quality of life.

Source: Molecular Genetics & Genomic Medicine - April 18, 2024 Category: Genetics & Stem Cells Authors: Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerard Berry, Susan A. Berry, Peter Burgard, Lindsay C. Burr Tags: ORIGINAL ARTICLE Source Type: research