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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.

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
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.
Article References: 
Reference Text: 
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.
Reference Order: 
1
PubMed ID: 
9536088
Reference Text: 
Mitchell SC, Smith RL. Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 2001; 29: 517-521.
Reference Order: 
2
PubMed ID: 
11259343
Reference Text: 
Wilcken B. Acid soaps in the fish odour syndrome [letter]. BMJ 1993; 307: 1497.
Reference Order: 
3
PubMed ID: 
Reference Text: 
Walker V. The fish odour syndrome. BMJ 1993; 307: 639-640.
Reference Order: 
4
PubMed ID: 
8401045
Reference Text: 
Ayesh R, Mitchell SC, Zhang A, Smith RL. The fish odour syndrome: biochemical, familial, and clinical aspects. BMJ 1993; 307: 655-657.
Reference Order: 
5
PubMed ID: 
8401051

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