Which are the symptoms of Trimethylaminuria?

Trimethylaminuria, also known as fish odor syndrome, is a rare metabolic disorder characterized by the inability to break down trimethylamine (TMA), a compound with a strong, fishy odor. This condition is caused by a genetic mutation that affects the production of an enzyme called flavin-containing monooxygenase 3 (FMO3), which is responsible for metabolizing TMA into an odorless compound.

Individuals with trimethylaminuria experience a range of symptoms related to the accumulation of TMA in their body. The most prominent and distressing symptom is the strong and offensive odor that is excreted in their sweat, urine, and breath. This odor can be likened to the smell of rotten fish, garbage, or ammonia. The intensity of the odor can vary among affected individuals and may be influenced by factors such as diet, hormonal changes, stress, and certain medications.

Body odor is the primary symptom of trimethylaminuria and often leads to social and psychological challenges for those affected. The odor can be persistent and difficult to eliminate, even with regular hygiene practices.

Other symptoms associated with trimethylaminuria may include:

• Bad breath: The fishy odor can also be present in the breath, causing halitosis.


• Strong-smelling urine: The urine of individuals with trimethylaminuria may have a fishy smell.


• Body secretions: The odor can also be present in other bodily secretions, such as vaginal discharge.


• Depression and anxiety: The social stigma and embarrassment associated with the condition can lead to psychological distress.


• Low self-esteem: The persistent odor can negatively impact self-confidence and self-image.


• Isolation and social withdrawal: Individuals with trimethylaminuria may avoid social situations due to fear of judgment or rejection.


• Psychosocial impact: The condition can significantly affect an individual's quality of life, leading to feelings of shame, embarrassment, and depression.

It is important to note that trimethylaminuria is a chronic condition, and while there is no cure, certain measures can help manage the symptoms. Dietary modifications, such as avoiding foods rich in trimethylamine precursors (choline, lecithin, and carnitine), may help reduce the production of TMA. Additionally, maintaining good personal hygiene, using odor-reducing products, and seeking support from healthcare professionals and support groups can assist individuals in coping with the challenges associated with trimethylaminuria.