Primary trimethylaminuria syndrome: more than an unpleasant odor.

Primary TMAU is a rare metabolic disorder that results from the failure of hepatic FMO3 to oxidize TMA due to a mutation in the I FMO3 i gene. Trimethylaminuria (TMAU) is a rare metabolic disorder characterized by an unpleasant body odor resembling decaying fish.[1] Biochemically, all affected patients present with an increased amount of trimethylamine (TMA) due to a mutation in the I FMO3 i gene, leading to the inability to oxidize this amine to the non-odorous metabolite, trimethylamine N-oxide (TMAO).[2] Patients with TMAU may experience serious psychosocial phenomena that limit their quality of life and also several systemic diseases.[3] Many therapeutic regimens have been proposed, and TMAU symptoms can be temporarily alleviated with certain drugs. Our patient exhibited a substantial and sustained improvement after a deprivation diet, underlining the importance of avoiding food containing elevated amounts of TMA in patients with mutations affecting the I FMO3 i gene. [Extracted from the article]