Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.

@article{Treacy1998MutationsOT,
  title={Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.},
  author={Eileen P Treacy and B. R. Akerman and Larry Ming Cheung Chow and Rima Youil and Claude Bibeau and J Lin and Andrew G. Bruce and Melanie J. Knight and David M. Danks and John Richard Cashman and Susan M. Forrest},
  journal={Human molecular genetics},
  year={1998},
  volume={7 5},
  pages={839-45}
}
Individuals with the recessive condition trimethylaminuria exhibit variation in metabolic detoxication of xenobiotics by hepatic flavin-containing monooxygenases. We show here that mutations in the human flavin-containing monooxygenase isoform 3 gene ( FMO3 ) impair N -oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype. Three disease-causing mutations in nine Australian-born probands have been identified which share a particular polymorphic haplotype. Nonsense… CONTINUE READING
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