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Trimethylaminuria (fish malodour syndrome): a “benign” genetic condition with major psychosocial sequelae

Helen Mountain, Joanna M Brisbane, Amanda J Hooper, John R Burnett and Jack Goldblatt
Med J Aust 2008; 189 (8): 468.

To the Editor: We report the case of a 41-year-old woman who sought medical opinion about an unpleasant body odour, first noticed when she was 7 years old. After experiencing ridicule, distress, shame, anxiety and low self-esteem during her school years, she first consulted a doctor about the problem at the age of 17 years, then again 2 years later, followed by a further four doctors over the next 20 years. All dismissed her concerns, and she was repeatedly told that she had a hygiene neurosis. Investigations and treatments during this time included being “sniffed”, vaginal swabs and vaginal cauterisation. Finally, a general practitioner referred her to a dermatologist, who consulted a microbiologist, and the diagnosis of trimethylaminuria (TMAU), or fish malodour syndrome, was confirmed by urinalysis. Now having a name for her condition, she found an Internet-based support foundation and referred herself for genetic counselling.

  • Helen Mountain1
  • Joanna M Brisbane2
  • Amanda J Hooper2
  • John R Burnett2,3
  • Jack Goldblatt1,3

  • 1 Genetic Services of Western Australia, Perth, WA.
  • 2 Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA.
  • 3 University of Western Australia, Perth, WA.


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