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

CONCLUSIONS: Analysis 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.PMID:38634223 | DOI:10.1002/mgg3.2443

Source: Molecular Medicine - April 18, 2024 Category: Molecular Biology Authors: Kuntal Sen Rima Izem Yuelin Long Jiji Jiang Laura L Konczal Robert J McCarter Members of the Urea Cycle Disorders Consortium (UCDC) Andrea L Gropman Jirair K Bedoyan Source Type: research