Defective FMO3 causes TMAU

Stable Identifier
R-HSA-5579019
Type
Pathway
Species
Homo sapiens
Synonyms
Defective FMO3 causes Trimethylaminuria (TMAU)
ReviewStatus
5/5
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Defective FMO3 causes TMAU
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Trimethylamine (TMA) is present in the diet (in fish) but primarily formed in vivo from the breakdown of choline. It is N-oxidised by FMO3 in the liver, the major isoform active towards TMA. Trimethylaminuria (TMAU; MIM:602079, fish-odour syndrome) is a human genetic disorder characterised by an impaired ability to convert the malodourous TMA to its odourless N-oxide. Patients emit a foul odour, which resembles that of rotting fish and can be a psychologically disabling condition (Messenger et al. 2013).
Literature References
PubMed ID Title Journal Year
24307925 A Review of Trimethylaminuria: (Fish Odor Syndrome)

Messenger, J, Bechtel, M, Clark, S, Massick, S

J Clin Aesthet Dermatol 2013
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
inherited metabolic disorder DOID:655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Authored
Jassal, B  (2014-06-06)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-06)
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