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Article

[Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain].

Medicina clinica - 22 Feb 2003

Mazón Ramos Ana, Gil-Setas Alberto, Berrade Zubiri Sara, Bandrés Echeverri Trinidad, Wevers Ron, Engelke Udo, Zschocke Johannes

Abstract excerpt

BACKGROUND AND OBJECTIVE: Trimethylaminuria or fish odor syndrome is a metabolic disorder characterized by a failure in the oxidation route from trimethylamine (TMA) to trimethylamineN-oxide (TMA-O). Primary trimethylaminuria is an inherited autosomic recessive disease due to mutations in the human FMO3 gene. High levels of free TMA in urine and other body fluids confer an unpleasant body odor resembling that of...

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Source

Identifiers

PMID: 12605812
DOI: 10.1016/s0025-7753(03)73656-2

Genes

FMO3

Provenance

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.

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