ArticleJournal of medical case reports2014
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.
Article in Journal of medical case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Gut Microbiota-Derived Trimethylamine N-Oxide and NT-proBNP in Heart Failure: A Critical Review of Diagnostic and Prognostic Value.Biomedicines · 2026Review
- Rapid detection ofMolecular medicine reports · 2022Article
- Inflammatory and deleterious role of gut microbiota-derived trimethylamine on colon cells.Frontiers in immunology · 2022Article
- Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.Molecules (Basel, Switzerland) · 2021Article
- Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin:Orphanet journal of rare diseases · 2019Article
- Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.BMC medical genetics · 2017Article
- Trimethylaminuria.BMJ case reports · 2016Article
- Fish Malodour syndrome in a child.BMJ case reports · 2015Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionTrimethylaminuria is a rare inherited disorder due to decreased metabolism of dietary-derived trimethylamine by flavin-containing monooxygenase 3. Several single nucleotide polymorphisms of the flavin-containing monooxygenase 3 gene have been described and result in an enzyme with decreased or abolished functional activity for trimethylamine N-oxygenation thus leading to trimethylaminuria. CASE PRESENTATION: Here we investigated an Italian family in which the proband was a 7-year-old girl with suspected trimethylaminuria, by flavin-containing monooxygenase 3 gene direct sequencing and urinary determination of trimethylamine and trimethylamine N-oxide. Genetic analysis found that, as with her parents and one of her two brothers, the proband carried three polymorphisms: c.472 G>A p. E158K (rs 2266782) in exon 4, c.627+10 C>G (IVS5+10G>C) (rs 2066534) and c.485-21 G>A (IVS4-22G>A) (rs 1920149) in intronic regions.
conclusionsDespite the same genotypic condition only the girl had symptoms attributable to the trimethylaminuria. The suspicion is that she has transient childhood trimethylaminuria. Therefore, we bring attention to the importance of genetic testing and eventual determination of urinary trimethylamine and trimethylamine N-oxide as instruments to offer to clinicians in the management of these pediatric patients.
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