Other Names for this Disease
- Fish malodor syndrome
- Fish odor syndrome
- Stale fish syndrome
Your QuestionAlthough I have not been diagnosed with trimethylaminuria, I have been having a foul odor for about 2 years. Can you tell me more about this condition? How can I be tested for this condition? How is it treated? Is there a cure for trimethylaminuria?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is trimethylaminuria?
- What are the signs and symptoms of trimethylaminuria?
- Is trimethylaminuria more common in certain people?
- What causes trimethylaminuria?
- How is trimethylaminuria inherited?
- Is testing available for trimethylaminuria?
- How might trimethylaminuria be treated?
- Can trimethylaminuria be cured by replacing the missing enzyme?
There are several mutations, or alterations in the gene, that are associated with trimethylaminuria. Researchers believe that a variety of genetic mutations (not yet discovered) can lead to the variability of the time of onset of symptoms and the strength of the odor. They also suspect that stress and diet play a role in triggering symptoms.
Since trimethylaminuria usually requires two mutations to cause symptoms, typically neither parent of an individual with trimethylaminuria has any symptoms. Occasionally, however, carriers of one copy of an FMO3 mutation may experience mild symptoms of trimethylaminuria or have temporary episodes of fish-like odor.
When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.
Carrier testing is also available for trimethylaminuria. This test is called either a 'TMA challenge' or a 'TMA load' test. It involves giving an individual a 600mg capsule of trimethylamine. Then the amount of trimethylamine that is not broken down and excreted in the urine is measured. If an individual is a carrier, the amount of trimethylamine that is not broken down is 20-30% of total trimethylamine excreted. For people who are not carriers, the amount of trimethylamine that is not broken down is less than 13%.
The laboratories listed below provide clinical diagnostic testing for elevated levels of trimethylamine in the urine. The Information Center provides the names of these centers for informational purposes only, not as an endorsement of the institutions' products or services. Please note that some laboratories do not accept direct contact from patients. Therefore, we recommend that you work with a medical or genetics professional to contact these laboratories for further information.
Arkansas Children's Hospital
Phone: (501) 364-1300
Web site: http://www.archildrens.org/documents/TMAinfoLab.pdf
Monell Chemical Senses Center
University of Pennsylvania
Contact: George Preti, PhD
Web site: http://www.monell.org/contact_us/tmau/
For more information, patients can send an e-mail to: firstname.lastname@example.org
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Avoiding foods containing trimethylamine and its precursors (choline and trimethylamine N-oxide). Trimethylamine is present in high levels in milk obtained from wheat-fed cows. Choline is present in high amounts in: eggs, liver, kidney, peas, beans, peanuts, soy products, brussel sprouts, broccoli, cabbage, and cauliflower, lecithin, and lecithin-containing fish oil supplements. Trimethylamine N-oxide is present in seafood. Freshwater fish have lower levels of trimethylamine N-oxide than fish from the ocean.
- Taking low doses of antibiotics to reduce the amount of bacteria in the gut. This decreases the amount of trimethylamine that is made by bacteria.
- Taking laxatives can decrease the amount of time trimethylamine stays in the intestines and reduce the amount of trimethylamine made in the gut.
- Taking certain nutritional supplements to decrease the concentration of trimethylamine in the urine.
- Activated charcoal taken at a dose of 750mg twice daily for ten days. Copper chlorophyllin taken at a dose of 60mg three times a day after meals for three weeks.
- Using soaps with a moderate pH, between 5.5 and 6.5. Trimethylamine is a strong base (pH 9.8), thus soaps with pH closer to that of normal skin help remove the secreted trimethylamine.
- Taking riboflavin (vitamin B2) supplements to enhance any existing FMO3 enzyme activity (which breaks down trimethylamine). Recommended intake is 30-40mg taken 3-5 times per day with food.
- Avoiding factors that promote sweating, such as exercise, stress, and emotional upsets.
NOTE: Individuals should follow the treatment advice of their healthcare provider and should not attempt to self-administer these treatment approaches. Medications and supplements can have unintended interactions, and dietary restrictions can result in nutritional deficits.
Choline is essential for nerve and brain development in fetuses and infants, therefore, pregnant and breast-feeding women should consult with their health care provider before restricting their dietary choline.
People with trimethylaminuria may also find the following to be helpful:
- Behavioral counseling to help with depression and other psychological symptoms.
- Genetic counseling to better understand how they developed the condition and to be aware of the risks of passing this disease on to their children. Visit the Healthcare Services section to find a list of online resources that can assist you in finding a genetics clinic near you.
- Trimethylaminuria. Genetics Home Reference Web site. January 2013; http://ghr.nlm.nih.gov/condition=trimethylaminuria. Accessed 1/27/2014.
- Phillips IR, Shephard EA. Trimethylaminuria. GeneReviews. April 19, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1103/. Accessed 1/27/2014.
- Learning about Trimethylaminuria. National Human Genome Research Institute Web site. July 20, 2011; http://www.genome.gov/11508983. Accessed 1/27/2014.