Objective: This study aims to describe the self-reported cognitive and emotional functioning in adult patients with late-onset urea cycle disorders (LO UCDs), highlighting the neuropsychiatric burden of the condition.

Materials and Methods: An observational, retrospective, archival, multicenter study was conducted on 11 female patients’ medical records aged 21.5-41 years. Data were extracted from the psychodiagnostic evaluation conducted during routine clinical practice. The psychodiagnostic assessments included the Adult Self-Report (ASR/18-59), the State-Trait Anxiety Inventory – Form Y (STAI-Y), and the Beck Depression Inventory – Second Edition (BDI-II). Descriptive statistics were applied to analyze the findings.

Results: Adult LO UCD patients exhibited significant challenges in emotional and cognitive functioning, with frequent self-reported symptoms related to both cognitive and emotional functioning. Pathological levels of internalizing behaviors, particularly withdrawal, were observed, as well as a high prevalence of self-reported cognitive dysfunction, such as attention problems and lethargy, anxiety and depressive symptoms. Externalizing issues were present but less prevalent. Anxiety and depressive symptoms were also commonly reported, with depressive symptoms impacting both somatic and cognitive domains.

Conclusions: This study underscores the high prevalence of cognitive and emotional dysfunctions in adult LO UCD patients. Future research involving larger cohorts and the combined use of self-report measures and objective neuropsychological assessments is essential to better understand and manage the cognitive and emotional impacts of UCDs.