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Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome

✍ Scribed by Dolphin, Colin T.; Janmohamed, Azara; Smith, Robert L.; Shephard, Elizabeth A.; Phillips, lan R.

Book ID
109918960
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
542 KB
Volume
17
Category
Article
ISSN
1061-4036

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Trimethylaminuria is inherited recessively as a defect in hepatic N-oxidation of dietary derived trimethylamine (TMA) which causes excess excretion of TMA so that affected individuals have a body odour resembling rotten fish. Flavin-containing mono-oxygenase 3 (FMO3) catalyses TMA oxidation and muta