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.
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- 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.
- 1. Treacy EP, Akerman BR, Chow LM, et al. Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxification. Hum Mol Genet 1998; 7: 839-845.
- 2. Mitchell SC, Smith RL. Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 2001; 29: 517-521.
- 3. Wilcken B. Acid soaps in the fish odour syndrome [letter]. BMJ 1993; 307: 1497.
- 4. Walker V. The fish odour syndrome. BMJ 1993; 307: 639-640.
- 5. Ayesh R, Mitchell SC, Zhang A, Smith RL. The fish odour syndrome: biochemical, familial, and clinical aspects. BMJ 1993; 307: 655-657.