Trimethylaminuria

Trimethylaminuria (pronounced tri-meth-yl-am-in-ur-ia) is a rare metabolic disorder that is characterized by an inability to break down a specific compound derived from the diet, known as trimethylamine.

Etymology

The term "Trimethylaminuria" is derived from the name of the compound "trimethylamine" that builds up in the body of individuals with this disorder, and the suffix "-uria", which is used in medical terminology to indicate a substance that is found in urine.

Symptoms

Individuals with Trimethylaminuria excrete large amounts of trimethylamine in their sweat, urine, and breath, giving off a strong fishy or body odor. Other symptoms may include a decreased sense of smell, depression, and social isolation due to embarrassment about the odor.

Causes

Trimethylaminuria is caused by mutations in the FMO3 gene. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds, including trimethylamine.

Diagnosis

Diagnosis of Trimethylaminuria is based on the presence of a strong body odor and the results of a urine test that measures the amount of trimethylamine in the urine.

Treatment

There is currently no cure for Trimethylaminuria. Treatment is focused on managing symptoms and may include dietary restrictions, use of acid soaps and body lotions, and in some cases, antibiotics to reduce the amount of trimethylaminuria-producing bacteria in the gut.

Related Terms

• Metabolic disorder
• FMO3 gene
• Urine test
• Antibiotics

External links

• Medical encyclopedia article on Trimethylaminuria
• Wikipedia's article - Trimethylaminuria

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