Diagnosis of suspected trimethylaminuria by NMR spectroscopy.

Background: Trimethylamine (TMA) is a volatile substance produced in the gut, absorbed into the blood and further metabolized by healthy individuals into trimethylamine-N-oxide (TMAO) by TMA-oxidase and then excreted in urine. Patients suffering from trimethylaminuria (TMAU) show an impaired enzymatic oxidation of TMA, excreting this amine in breath, urine and other body secretions which confers an unpleasant body odor.

Methods: We diagnosed a Brazilian adult male patient suspected of trimethylaminuria with a burden of choline bitartarate by monitoring the urinary excretion of TMA and TMAO by proton nuclear magnetic resonance spectroscopy ((1)H-NMR).