Living with Trimethylaminuria (TMAU) from an adult viewpoint

Abstract

Using new case studies, Abie Lateef and Sylvie Marshall-Lucette examine the causes and consequences of ‘fish odour syndrome’, an under-researched and distressing condition that can have an often over-looked effect on quality of life Trimethylaminuria (TMAU) is an uncommon, inherited metabolic disease (IMD) characterised by an unpleasant rotting fish-like mouth or body odour. There does not seem to be any available study that addresses the psycho-social impact of this often missed and delayed diagnosed condition. Thus, this study explores adult patients' perspectives of living with TMAU, at one IMD department in the United Kingdom. A descriptive phenomenological approach was adopted to study 11 adult participants, selected from 19 eligible patients with TMAU. After gaining approval from a Local Research Ethics Committee, data from in-depth, semi-structured interviews were transcribed verbatim and inductively analysed. Four main themes were identified from the data: conceptualisation of TMAU; personal sensitivity in the conundrum of TMAU; life with TMAU; and moving forward with TMAU. The participants' highly emotive, insightful lived experiences suggest an overlooked and overdue need for awareness of TMAU among healthcare professionals and the public, as well as funded studies into appropriate treatment.