Trimethylaminuria (TMAU), a rare inherited metabolic disorder, makes those affected exude an overwhelming odor of decaying fish. This condition is the result of a chemical imbalance in the body. It more precisely is caused by an accumulation of trimethylamine, which the microbiome generates when breaking down certain foods. Because TMAU is likely underdiagnosed, its true prevalence is still unknown. As the estimates go, its impact is a rare one—between 1 in 200,000 and 1 in a million people worldwide.
TMAU is caused by a build-up of trimethylamine. This toxic byproduct is produced when digestive bacteria metabolize certain foods. These dietary staples are indispensable, and they include eggs, liver, legumes, and highly nutritious seafood. In normal people, this FMO3 gene produces an enzyme that detoxifies smelly trimethylamine into a non-smelly compound. In the majority of TMAU patients, mutations in the FMO3 gene impair the enzymatic activity. In turn, this process causes the body to build up a dangerous amount of trimethylamine.
Your body gets rid of all that excess trimethylamine through your sweat, urine, and breath. This chemical reaction is what gives rotting fruit its signature smell. Symptoms can be present at birth or appear later on, usually around the time of puberty. Hormonal fluctuations related to the menstrual cycle may induce a temporary variant of TMAU in certain individuals.
The social and psychological impact of TMAU can be devastating. The impact of living with a constant smell is profound and often erodes quality of life, straining social ties and professional advancement. Sadly, due to stigma surrounding the condition, the resulting isolation and emotional suffering from withdrawal can upset lives even further.
At this time, there is no documented cure for TMAU. Management strategies are concentrating on dietary interventions to lower the amount of trimethylamine produced. It’s only reasonable that patients would want to avoid foods that make their symptoms worse. They may be helped by certain supplements or medications, but only with medical supervision. Even with these innovations, patients still face an uphill battle in managing symptoms.
