This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Trimethylaminuria causes the body to produce a fishy odor that is released in the sweat, urine, breath, and reproductive fluids. People with trimethylaminuria are unable to break down trimethylamine. Trimethylamine comes from specific chemicals (choline, carnitine, TMAO) found in certain foods. The excess trimethylamine builds up and is the source of the odor. There are no other physical symptoms from trimethylaminuria, but people with this condition may experience serious psychological and social distress. Trimethylaminuria is due to a FMO3 gene that is not working correctly. It is inherited in an autosomal recessive pattern. It is diagnosed based on the symptoms, clinical exam, urine analysis, and can be confirmed by genetic testing. Treatment for trimethylaminuria mainly includes diet modification, acidic soaps and lotions, and vitamin B12 supplements. Other treatment options include antibiotics, activated charcoal, and probiotics.
For more information, visit GARD.