Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.
Variants (also known as mutations) in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of eggs, liver, legumes (such as soybeans and peas), certain kinds of fish, and other foods. Normally, the FMO3 enzyme converts strong-smelling trimethylamine into another molecule that has no odor. If the enzyme is missing or its activity is reduced because of a variant in the FMO3 gene, trimethylamine is not processed properly and can build up in the body. As excess trimethylamine is released in a person's sweat, urine, and breath, it causes the odor characteristic of trimethylaminuria. Researchers believe that stress and diet also play a role in triggering symptoms.
Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown.
Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but typically do not show signs and symptoms of the condition. Carriers of an FMO3 variant, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor.
Makiko Shimizu is in Machida, Japan. Shimizu is rated as an Elite expert by MediFind in the treatment of Trimethylaminuria. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Trimethylaminuria, Metabolic Syndrome, Obesity, and Type 2 Diabetes T2D.
Hiroshi Yamazaki is in Machida, Japan. Yamazaki is rated as an Elite expert by MediFind in the treatment of Trimethylaminuria. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Trimethylaminuria, Larynx Atresia, Swimmer's Ear, and Hearing Loss.
Rosalia D'angelo is in Messina, Italy. D'angelo is rated as a Distinguished expert by MediFind in the treatment of Trimethylaminuria. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Trimethylaminuria, Cerebral Cavernous Malformation, Hemangioma, and Retinitis Pigmentosa.
Published Date: September 08, 2021Published By: National Institutes of Health
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