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Article

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

Molecular genetics and metabolism - 1 Jun 2006

Teresa Esposito, Lonardo Fortunato, Fiumara Agata, Lombardi Cinzia, Russo Paola, Zuppi Cecilia, Scarano Gioacchino, Musumeci Salvatore, Gianfrancesco Fernando

Abstract excerpt

Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to the affected individual a very unpleasant body odor resembling that of rotting fish. This...

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Source

Identifiers

PMID: 16600650
DOI: 10.1016/j.ymgme.2006.02.014

Genes

FMO3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.PMID 16600650Read ↗

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Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria.Semantic proximity Read ↗

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