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Article

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

BMC medical genetics - 15 Feb 2017

Guo Yiran, Hwang Liang-Dar, Li Jiankang, Eades Jason, Yu Chung Wen, Mansfield Corrine, Burdick-Will Alexis, Chang Xiao, Chen Yulan, Duke Fujiko F, Zhang Jianguo, Fakharzadeh Steven, Fennessey Paul, Keating Brendan J, Jiang Hui, Hakonarson Hakon, Reed Danielle R, Preti George

Abstract excerpt

BACKGROUND: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a...

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Source

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Identifiers

PMID: 28196478
DOI: 10.1186/s12881-017-0369-8
PMCID: PMC5310055

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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