Defective FMO3 causes Trimethylaminuria (TMAU)

Stable Identifier
R-HSA-5579019
Type
Pathway
Species
Homo sapiens
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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, Clark, S, Massick, S, Bechtel, M

J Clin Aesthet Dermatol 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
inherited metabolic disorder 655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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