About Trimethylaminuria

What is Trimethylaminuria?

Trimethylaminuria (TMAU) is a rare metabolic disorder that causes an unpleasant body odor. It is caused by a defect in the body's ability to break down trimethylamine, a compound that is produced in the gut when certain foods are digested. People with TMAU have an excess of trimethylamine in their urine, sweat, and breath, which gives off a strong fishy odor.

What are the symptoms of Trimethylaminuria?

The main symptom of trimethylaminuria is a strong, unpleasant body odor that is often described as “fishy.” Other symptoms may include:

-Body odor that is worse when the person is under stress or when the temperature is warm

-Body odor that is worse after eating certain foods, such as eggs, fish, beans, or certain vegetables

-Body odor that is worse during the menstrual cycle

-Body odor that is worse after taking certain medications

-Body odor that is worse after exercising

-Fatigue

-Depression

-Anxiety

-Headaches

-Digestive issues

-Joint pain

-Skin rashes

What are the causes of Trimethylaminuria?

Trimethylaminuria is caused by a genetic defect in the enzyme responsible for breaking down trimethylamine, a compound produced in the gut when certain foods are digested. This enzyme defect results in an inability to break down trimethylamine, which then builds up in the body and is released in sweat, urine, and breath, giving off a strong fishy odor. Other causes of trimethylaminuria include certain medications, infections, and liver disease.

What are the treatments for Trimethylaminuria?

1. Dietary modifications: Avoiding foods high in trimethylamine (TMA) such as fish, eggs, legumes, and certain vegetables.

2. Antibiotics: Rifaximin, metronidazole, and neomycin have been used to reduce the production of TMA.

3. Activated charcoal: This can help reduce the absorption of TMA from the gut.

4. Choline supplementation: Choline is a precursor to TMA and supplementing with it can help reduce the production of TMA.

5. Probiotics: Certain probiotics have been shown to reduce the production of TMA.

6. Enzyme replacement therapy: This involves replacing the deficient enzyme with a functional one.

What are the risk factors for Trimethylaminuria?

1. Genetic mutations: Trimethylaminuria is caused by a genetic mutation in the FMO3 gene, which is responsible for producing an enzyme that helps the body break down trimethylamine.

2. Hormonal imbalances: Hormonal imbalances, such as those caused by puberty, pregnancy, or menopause, can trigger or worsen symptoms of trimethylaminuria.

3. Certain medications: Certain medications, such as antibiotics, can interfere with the body’s ability to break down trimethylamine.

4. Diet: Eating certain foods, such as fish, eggs, legumes, and certain vegetables, can increase the amount of trimethylamine in the body.

5. Stress: Stress can trigger or worsen symptoms of trimethylaminuria.

Is there a cure/medications for Trimethylaminuria?

Yes, there are medications available to treat Trimethylaminuria. These medications include antibiotics, activated charcoal, and choline supplements. However, it is important to note that these medications may not be effective for everyone and should be discussed with a doctor.