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Trimethylaminuria and a human FMO3 mutation database.

Diana Hernandez1, Sarah Addou, David Lee

  • 1Department of Biochemistry and Molecular Biology, University College London, London, UK.

Human Mutation
|August 26, 2003
PubMed
Summary
This summary is machine-generated.

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Trimethylaminuria (TMAuria), or fish-odor syndrome, is caused by defective flavin-containing monooxygenase 3 (FMO3) enzyme activity. This genetic disorder leads to body odor and significant psychosocial issues, impacting individuals and potentially drug metabolism.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Trimethylaminuria (TMAuria), or fish-odor syndrome, results from impaired flavin-containing monooxygenase 3 (FMO3) function.
  • FMO3 in the liver normally metabolizes odorous trimethylamine (TMA) into a nonodorous form, preventing its accumulation.
  • Defective FMO3 leads to TMA secretion, causing a distinct fishy body odor and associated psychosocial distress.

Purpose of the Study:

  • To document known mutations causing TMAuria and FMO3 polymorphic variants.
  • To establish a centralized, accessible human FMO3 mutation database.
  • To highlight the implications of FMO3 dysfunction on drug metabolism.

Main Methods:

  • Compilation of known FMO3 mutations (missense, nonsense, deletion) and polymorphic variants.

Related Experiment Videos

  • Utilized MuStar, a locus-specific database system, for data management and web dissemination.
  • Created a dedicated online database for human FMO3 variants.

    • Main Results:

    • The database currently includes 24 entries detailing FMO3 mutations and variants.
    • Twelve missense, three nonsense, and one gross deletion mutations are identified as causes of TMAuria.
    • Eight polymorphic variants, not linked to TMAuria, have also been reported.

    Conclusions:

    • The human FMO3 mutation database provides a valuable resource for researchers and clinicians.
    • Understanding FMO3 variants is crucial for diagnosing TMAuria and managing its psychosocial consequences.
    • Compromised FMO3 activity has broader implications for drug efficacy and adverse reactions in the general population.