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Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report

Rosalia D'Angelo, Concetta Scimone, Teresa Esposito

    Journal of Medical Case Reports
    |October 8, 2014
    PubMed
    Abstract

    Insights

    Trimethylaminuria, a metabolic disorder, can present differently even within families carrying the same genetic mutations. Genetic testing and metabolite analysis are crucial for diagnosing and managing this condition in children.

    Area of Science:

    • Genetics
    • Biochemistry
    • Metabolic Disorders

    Background:

    • Trimethylaminuria is a rare inherited metabolic disorder caused by reduced activity of flavin-containing monooxygenase 3 (FMO3).
    • FMO3 enzyme dysfunction impairs the metabolism of dietary trimethylamine, leading to its accumulation.
    • Genetic variations in the FMO3 gene are known to cause decreased or abolished enzyme activity, resulting in trimethylaminuria.

    Observation:

    • A 7-year-old Italian girl presented with suspected trimethylaminuria.
    • Genetic analysis of her family revealed the proband, her parents, and one brother shared three FMO3 gene polymorphisms (c.472 G>A, c.627+10 C>G, and c.485-21 G>A).

    Findings:

    • Despite sharing the same FMO3 genotype, only the proband exhibited symptoms of trimethylaminuria.
    • This suggests the possibility of transient childhood trimethylaminuria in the affected girl.
    • Urinary trimethylamine and trimethylamine N-oxide levels were determined.

    Implications:

    • Genetic testing and urinary metabolite analysis are vital tools for clinicians.
    • These diagnostic methods aid in the management of pediatric patients with suspected trimethylaminuria.
    • Understanding genotype-phenotype variability is crucial for accurate diagnosis and treatment.

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