Defective FMO3 does not N-oxidise TMA

Stable Identifier
R-HSA-5602966
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Defects in FMO3 can cause trimethylaminuria (TMAU; MIM:602079, fish-odour syndrome), a human genetic disorder characterised by an impaired ability to convert the malodourous TMA to its odourless N-oxide (Treacy et al. 1998). Mutations that cause TMAU include M66I, P153L, R492W, N61S and E32K (Zhang et al. 2003, Yeung et al. 2007).

Literature References
PubMed ID Title Journal Year
12893987 Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria

Zhang, J, Tran, Q, Lattard, V, Cashman, JR

Pharmacogenetics 2003
9536088 Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication

Treacy, EP, Akerman, BR, Chow, LM, Youil, R, Bibeau, C, Lin, J, Bruce, AG, Knight, M, Danks, DM, Cashman, JR, Forrest, SM

Hum. Mol. Genet. 1998
17531949 Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria

Yeung, CK, Adman, ET, Rettie, AE

Arch. Biochem. Biophys. 2007
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
N,N-dimethylaniline monooxygenase activity of FMO3 mutants:FAD [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
inherited metabolic disorder 655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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