Abstract

RUA, Inês; RIBAU, Rita; SILVA, Mariana Fonseca  and  MARTINS, Elsa. Trimethylaminuria, a social disease? A case report. Rev Port Med Geral Fam [online]. 2022, vol.38, n.4, pp.408-411.  Epub Aug 31, 2022. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v38i4.13499.

Trimethylaminuria or ‘fish odour syndrome’ is a rare and under-recognised disease caused by a deficit of flavin monooxygenase 3 enzyme (FMO3). This disease is characterized by the presence of a fishy smell after the ingestion of foods containing trimethylamine precursors. There are no other relevant physical symptoms, however, the social and psychological consequences may be detrimental. Understanding and diagnosing the disease is key to minimising its social and psychological impact, through the implementation of symptom reduction strategies. This article presents a case report of a 6-year-old female patient with trimethylaminuria, highlighting the importance of children’s consultation done in primary care to address family concerns and early detect rare diseases, but with possible long-term complications.

Keywords : Metabolism, Inborn errors; Methylamines/urine; Primary health care.

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