BackgroundTrimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N‐oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N‐oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish. When the involved enzyme flavin mono‐oxygenase 3 is deficient, TMA builds up and is released in the person's sweat, urine, and breath, giving off a strong body odor. We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU attending the main Irish Reference Center. Research on the behavioral and psychosocial aspects of this condition is limited. This study explores the patients' perspectives of living with TMAU in Ireland.MethodsA qualitative descriptive phenomenological approach was used. Six adults participated in this study. Data were gathered through semi‐structured interviews, which were transcribed and analyzed.ResultsThe results suggest that the participants experienced a negative journey to diagnosis. Fear, anxiety, paranoia, and dysfunctional thinking are a constant struggle. Participants reported using avoidant coping mechanisms and strategic planning to navigate daily life.ConclusionIt is considered that the results from this study will inform future interventions with this unique patient cohort.

Background: Fifteen percent of women worldwide experience depression in the perinatal period. Suicide is now one of the leading causes of maternal mortality in developed countries. Internationally, many healthcare systems screen post-natal women for depressive symptoms and suicidal ideation to facilitate early assessment and intervention. To our knowledge, no Irish data exists on the prevalence of suicidal ideation in this cohort. Aims: To evaluate the prevalence of suicidal ideation and depressive symptoms using the Edinburgh Postnatal Depression Scale (EPDS) in post-natal women attending a large Dublin maternity hospital. Methods: A retrospective cohort study was conducted. Women were randomly selected by delivery date over a 6 month period. Demographic and medical information was collected from their booking visit and discharge summary data. EPDS results at discharge post-partum were examined. Results: Data was collected on 643 women. Post-partum, 19 women (3.4%) had experienced suicidal ideation in the previous 7 days. Just over half of these women also had high EPDS scores (>12). Overall, 29 women (5.2%) screened positive for depression (EPDS score > 12). Conclusions: The rate of suicidal ideation is in line with the published international data and emphasises the need for all clinicians to inquire about such thoughts. Training of midwifery and obstetric staff is required. Maternity units should have a policy on the management of suicidal ideation and risk. The prevalence of depressive symptoms post-partum was comparatively low in our study. This could suggest that antenatal screening and early intervention, which are integral parts of the perinatal mental health service, are effective. However, due to limitations of the study, it could also reflect an under-representation of depressive symptom burden in this cohort.