Trimethylaminuria

Trimethylaminuria, commonly known as "fish odor syndrome," is a rare metabolic disorder characterized by the body's inability to metabolize trimethylamine (TMA), a compound produced naturally in the digestive tract from certain foods. This condition leads to the accumulation of TMA and its oxidized form, trimethylamine N-oxide (TMAO), in the bloodstream. As a result, individuals with trimethylaminuria often experience a persistent, unpleasant body odor that is particularly noticeable after consuming foods high in trimethylamine, such as eggs, fish, meat, and certain dairy products.

The exact cause of trimethylaminuria remains unclear, but it is believed to involve genetic mutations in enzymes responsible for TMA metabolism, particularly the flavin-containing monooxygenase 3 (FMO3) enzyme. Some cases may also be linked to dietary factors, such as deficiencies in certain vitamins or minerals, or underlying conditions like liver disease or gastrointestinal disorders. Diagnosis typically involves a combination of clinical evaluation, dietary history, and sometimes genetic testing to confirm the presence of FMO3 mutations.

Treatment options are limited but may include dietary modifications to reduce TMA intake, such as avoiding high-risk foods or using supplements like vitamin B6, which may help the body metabolize TMA more efficiently. Some individuals also benefit from probiotic therapies or enzyme replacement therapies under medical supervision. Lifestyle adjustments, such as maintaining a healthy weight and managing stress, may also help reduce odor-related symptoms. Support groups and counseling can provide additional emotional and practical support for those living with the condition. Research into more effective treatments continues, aiming to improve quality of life for affected individuals.