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Article

Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.

Nature genetics - 1 Dec 1997

Dolphin C T, Janmohamed A, Smith R L, Shephard E A, Phillips I R

Abstract excerpt

Individuals with primary trimethylaminuria exhibit a body odour reminiscent of rotting fish, due to excessive excretion of trimethylamine (TMA; refs 1-3). The disorder, colloquially known as fish-odour syndrome, is inherited recessively as a defect in hepatic N-oxidation of dietary-derived TMA and cannot be considered benign, as sufferers may display a variety of psychosocial reactions, ranging from social...

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Source

Identifiers

PMID: 9398858
DOI: 10.1038/ng1297-491

Genes

FMO3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.PMID 9398858Read ↗

Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome.Semantic proximity Read ↗

Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients.Semantic proximity Read ↗

Trimethylaminuria (fish-odor syndrome): a case report.Semantic proximity Read ↗

Trimethylaminuria and a human FMO3 mutation database.Semantic proximity Read ↗

Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.Semantic proximity Read ↗

Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria.Semantic proximity Read ↗

Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.Semantic proximity Read ↗

A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy.Semantic proximity Read ↗

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.Semantic proximity Read ↗

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.Semantic proximity Read ↗

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.Semantic proximity Read ↗

Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort.Semantic proximity Read ↗

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