Cited by 72Pharmacogenetics and Drug MetabolismOlfactory and Sensory Function StudiesOdor and Emission Control Technologies

Transient trimethylaminuria related to menstruation

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Shimizu, Makiko, Cashman, John R, Yamazaki, Hiroshi·2007·BMC Medical Genetics

Abstract

Background: Trimethylaminuria, or fish odor syndrome, includes a transient or mild malodor caused by an excessive amount of malodorous trimethylamine as a result of body secretions. Herein, we describe data to support the proposal that menses can be an additional factor causing transient trimethylaminuria in self-reported subjects suffering from malodor and even in healthy women harboring functionally active flavin-containing monooxygenase 3 (FMO3). Methods: FMO3 metabolic capacity (conversion of trimethylamine to trimethylamine N-oxide) was defined as the urinary ratio of trimethylamine N-oxide to total trimethylamine. Results: Self-reported Case (A) that was homozygous for inactive Arg500stop FMO3, showed decreased metabolic capacity of FMO3 (i.e., ~10% the unaffected metabolic capacity) during 120 days of observation. For Case (B) that was homozygous for common [Glu158Lys; Glu308Gly] FMO3 polymorphisms, metabolic capacity of FMO3 was almost ~90%, except for a few days surrounding menstruation showing < 40% metabolic capacity. In comparison, three healthy control subjects that harbored heterozygous polymorphisms for [Glu158Lys; Glu308Gly] FMO3 or homozygous for wild FMO3 showed normal (> 90%) metabolic capacity, however, on days around menstruation the FMO3 metabolic capacity was decreased to ~60–70%. Conclusion: Together, these results indicate that abnormal FMO3 capacity is caused by menstruation particularly in the presence, in homozygous form, of mild genetic variants such as [Glu158Lys; Glu308Gly] that cause a reduced FMO3 function.

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  • Menstrual trimethylaminuria is more pronounced in women homozygous for variants that mildly reduce FMO3 enzyme activity.

    “This menstrual trimethylaminuria is more pronounced in women homozygous for variants that result in a mild decrease in FMO3 enzyme activity (103).”

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  1. Mitchell SC: Trimethylaminuria: susceptibility of heterozy- gotes. Lancet 1999, 354:2164-2165.

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Authors
Shimizu, M., Cashman, J. R., & Yamazaki, H.
Affiliations
  • Showa Pharmaceutical University (JP)
  • Human BioMolecular Research Institute (US)
Corresponding author
Yamazaki, Hiroshi
Venue
BMC Medical Genetics
Published
2007-01-27
Volume
8
Issue
1
Pages
2-2
ISSN
1471-2350 (ISSN-L)
OpenAlex
W2142192795
Cited by
72
References
8
Citations by year
2026: 2 · 2025: 1 · 2024: 2 · 2022: 3 · 2021: 1 · 2020: 5 · 2019: 3 · 2018: 5 · 2017: 4 · 2016: 5 · 2015: 4 · 2014: 5 · 2013: 7 · 2012: 4
FWCI
5.20
Type
journal article
Language
en
Open access
Locations
  • BMC Medical Genetics (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Japan Research Foundation for Clinical Pharmacology
  • National Institutes of Health
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK 59618, R01DK059618)
Topics
  • Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
  • Life Sciences › Neuroscience › Sensory Systems › Olfactory and Sensory Function Studies
  • Physical Sciences › Chemical Engineering › Process Chemistry and Technology › Odor and Emission Control Technologies
Keywords
trimethylaminuria, fish odor syndrome, menstruation, FMO3, trimethylamine N-oxide, malodor, menstrual cycle
MeSH terms
Adult, Female, Heterozygote, Homozygote, Humans, Menstruation, Metabolism, Inborn Errors, Methylamines, Oxygenases, Polymorphism, Genetic, Time Factors

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