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.
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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.
Helen Mountain, Senior Genetic Counsellor1
Joanna M Brisbane, Research Assistant2
Amanda J Hooper, Senior Medical Scientist2
John R Burnett, Head,2 and Clinical Professor, School of Medicine and Pharmacology3
Jack Goldblatt, Director,1 and Clinical Professor, School of Paediatrics and Child Health3
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.
Mitchell SC, Smith RL. Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 2001; 29: 517-521.
Wilcken B. Acid soaps in the fish odour syndrome [letter]. BMJ 1993; 307: 1497.
Walker V. The fish odour syndrome. BMJ 1993; 307: 639-640.
Ayesh R, Mitchell SC, Zhang A, Smith RL. The fish odour syndrome: biochemical, familial, and clinical aspects. BMJ 1993; 307: 655-657.
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