Trimethylaminuria: An under‐recognised and socially debilitating metabolic disorder
Abstract
Primary flavin mono‐oxygenase 3 deficiency, an inborn error of choline metabolism, leads to an accumulation of trimethylamine, which because of its associated pungent odour of rotting fish, is a socially crippling disorder. Although it often has its onset in early childhood, it may take years or even decades before the diagnosis is established. In this review the clinical biochemical and genetic features of the disorder are reported. The principles of therapy will also be covered, including dietary, pharmacological approaches, as well as techniques used to manipulate the gastrointestinal environment as a strategy to reduce the gastrointestinal load of trimethylamine.
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Patients suffering from trimethylaminuria are often treated by adapting to a vegan diet in order to limit the intake of dietary animal products that promote TMA production such as egg yolk and various meats.
“patients suffering from trimethylaminuria, where TMA accumulates in various body fluids, are often treated by adapting to a vegan diet in order to limit the intake of dietary animal products that promote TMA production such as egg yolk and various meats [15]”
From Uncovering the trimethylamine-producing bacteria of the human gut microbiota (2017) · cites this paper as [15]
Cites
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Uncovering the trimethylamine-producing bacteria of the human gut microbiota
Rath, S., Heidrich, B., Pieper, D. H., & Vital, M. (2017) · Microbiome · doi:10.1186/s40168-017-0271-9 · Cited by 515 · see citing works
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- Authors
- Christodoulou, J.
- Affiliations
- The University of Sydney (AU)
- Corresponding author
- Christodoulou, John
- ORCID
- Christodoulou, John
- Venue
- Journal of Paediatrics and Child Health
- Publisher
- Wiley
- Published
- 2011-01-31
- Volume
- 48
- Issue
- 3
- Pages
- E153-5
- ISSN
- 1034-4810 (ISSN-L)
- 1440-1754
- OpenAlex
- W2113302560
- Cited by
- 32
- References
- 10
- Citations by year
- 2026: 2 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 4 · 2019: 2 · 2018: 2 · 2017: 8 · 2016: 4 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 0.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Paediatrics and Child Health (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Rheumatology › Folate and B Vitamins Research
- Keywords
- trimethylaminuria, trimethylamine, choline metabolism, inborn errors of metabolism, social dysfunction, diagnosis, genetic characteristics, dietary therapy, pharmacotherapy
- MeSH terms
- Humans, Metabolism, Inborn Errors, Methylamines
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