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Trimethylaminuria.

M A Brewster, H Schedewie

    Annals of Clinical and Laboratory Science
    |January 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Trimethylaminuria causes a fishy body odor due to abnormal trimethylamine (TMA) excretion. Dietary choline restriction can eliminate this odor, highlighting the importance of diagnosing this metabolic disorder.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Trimethylaminuria (TMAU) is a rare metabolic disorder.
    • Characterized by the accumulation of trimethylamine (TMA), leading to a distinct fish-like body odor.
    • Caused by a defect in the enzyme responsible for converting TMA to non-odorous TMA-oxide.

    Purpose of the Study:

    • To summarize reported cases of trimethylaminuria.
    • To describe a new quantitative assay for TMA.
    • To investigate the efficacy of choline restriction as a treatment.

    Main Methods:

    • Review of nine reported cases of TMAU.
    • Development and application of a rapid quantitative assay for urinary TMA.
    • Choline loading tests and dietary choline restriction in affected individuals.

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    Main Results:

    • Presented TMA values for 95 controls and 3 TMAU cases.
    • Demonstrated that oral choline loading significantly increases urinary TMA levels.
    • Showed complete odor elimination in a TMAU case through choline restriction.

    Conclusions:

    • Trimethylaminuria is an inborn error of metabolism with significant psycho/social impact.
    • Dietary choline restriction is an effective therapy for managing TMAU.
    • Accurate laboratory diagnosis and physician awareness are crucial for timely intervention.