Trimethylaminuria: The Fish-Odour Syndrome

Trace Amines and Their Receptors

“…In humans, a genetic deficiency in FMO3 leads to the condition of trimethylaminuria (Humbert et al, 1970), in which large quantities of trimethylamine are excreted in sweat, urine, and exhaled air (Fennema et al, 2016). Kidney damage (Bain et al, 2006;Chhibber-Goel et al, 2016) and gut dysbiosis (Fennema et al, 2016) can also lead to trimethylaminuria, as can invasion by pathologic microflora associated with bacterial vaginosis or infections of the oral cavity (Fennema et al, 2016;Zhang and Davies, 2016).…”

Trimethylamine-N-Oxide: A Carnitine-Derived Metabolite That Prolongs the Hypertensive Effect of Angiotensin II in Rats

“…TMA is rapidly oxidized to TMAO by flavin-containing monooxygenase, a hepatic enzyme 4 . A deficiency of the enzyme results in trimethylaminuria or a "fish odor syndrome" which is a rare, autosomal recessive disease characterized by the accumulation of TMA in the body 5 .…”

Trimethylaminuria (Fish-Odor Syndrome)

“…2,3 Trimethylaminuria, a rare metabolic disorder, results from a defect in the hepatic microsomal oxidase enzyme system, which metabolizes TMA. The condition, characterized by an odor similar to that of decaying fish, is inherited as an autosomal recessive trait and was first described by Humbert et al 4 in 1970. The rarity of the entity, the need for specialist investigations, and the inability of some individuals to detect the malodor can lead to delay in diagnosis.…”