The genetic and biochemical basis of trimethylaminuria in an Irish cohort

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

Abstract Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemical analysis of urine, with the calculatio...

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Bibliographic Details
Main Authors: Samantha Doyle, James J. O'Byrne, Mandy Nesbitt, Daniel N. Murphy, Zaza Abidin, Niall Byrne, Gregory Pastores, Richard Kirk, Eileen P. Treacy
Format: Article
Language:English
Published: Wiley 2019-05-01
Series:JIMD Reports
Subjects:
fish odor syndrome
FMO3 gene
genetic polymorphism
genotype
trimethylamine
trimethylamine N‐oxide
Online Access:https://doi.org/10.1002/jmd2.12028

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