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 calculation of flavin monooxygenase trimethylamine conversion capacity. Genetic testing, sequencing the entire coding region of the FMO3 gene has been recommended for affected individuals who convert less than 90% of the total TMA load to TMAO.

Methods

Genetic analysis was undertaken for 13 Irish patients with TMAU of varying phenotypic severity (three severe, six moderate, and four mild).

Results

A genetic diagnosis was made for seven patients, including for five of the nine moderate

SUBMITTER: Doyle S 

PROVIDER: S-EPMC6498825 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature