One in a Million ®

NORD raises awareness of rare diseases by telling the stories of affected individuals and families. In these “One in a Million” stories, we hope to communicate that every life is important and no disease is rare when it affects someone you love.

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Cheryl Marshall

My journey with trimethylaminuria (TMAU) has been similar to that of many others who have the disorder. At age 10 or 11, I began to notice people stepping back from me when I approached them. It happened with peers, teachers, and family members at any time of the day, and regardless of how active or inactive I was. To add to that, my parents were always telling me to go take a bath—even after I had just taken one.

By the time I was in middle school, kids started to tease me daily. I would be called “skunk”, “smelly”, and “olive pits”. No one wanted to sit next to me or pick me for team sports. The teacher always ended up assigning me to a seat or a team.

In high school, the taunting was worse. I was becoming more withdrawn but continued going to different doctors, trying to find out what was wrong. Somehow, I graduated from high school, went to college, became a nurse, and got married.

I continued to do my own research—convinced that whatever was wrong with me was an internal problem as it clearly did not matter what I applied on the outside. My temporary solution was to avoid certain situations that made the problem worse: crowded hot places, stressful conditions, heavy clothing. I avoided making new friends and tried not to look people in the eyes when I passed them. It was just too painful to see the disgust on their faces when they realized that I had a bad odor.

I became a registered nurse, got married and moved to Florida with my family; and the malodor problem followed me too. I vividly remember the morning when, after my night-shift, a nurse walked into the office, inhaled deeply, and said, “Cheryl must be here this morning.” She did not see me sitting in the dictation room nearby. Co-workers would get up and leave the nursing station every time I came in. They did not hide the fact that they did not want me near them. The doctors I consulted were unable to figure out what was wrong and one even laughed when I described my problem.

Thankfully, during one of my online searches, I came across the Body Odor Support Group and, eventually, the Trimethylaminuria Foundation (TF). To my amazement, I discovered that there were many, many people who had the very same problem. I was in shock as I read other people’s stories that mirrored my own in a sad kind of way.

It was then that I discovered there was a name for my problem: trimethylaminuria or TMAU. I learned that TMAU is a rare metabolic disorder of the liver that causes an inability to fully metabolize certain foods. The byproduct of this incomplete process is a foul-smelling gas that is released through our sweat, breath, and urine. The list of problematic foods, as luck would have it, contains ALL the things that I like and had been eating in abundance for years! With every meal I ate, I’d added to the problem.



Now that I know the name and mechanisms of my disorder, I have decided to do my part to help bring about more research and, ultimately, a cure. I do not want others to suffer the way I have. There is much more work to be done. Medical professionals need to be educated about TMAU so that they can direct others to get the correct answers. Testing needs to be more accessible for all, and more funds need to be made available for research.

The TF and its constituency all work tirelessly to increase awareness of TMAU. I am proud to be affiliated with this group. Together with NORD, we have established a Restricted Research Fund to raise money that will go toward TMAU research. We encourage everyone to donate to the fund. It is only through research and advocacy that we will finally get this problem solved. We won’t let stigma hold us back and will continue to do our part because we want and deserve what every other citizen wants – the right to life (to get an education and earn a living), liberty and the pursuit of happiness without harassing and discriminatory actions. Please help us to find a cure.

New Report on the FMO3 story by Liz Shephard and Ian Phillips

Trimethylaminuria is caused by a defect in the gene that codes for the protein FMO3, which stands for flavin-containing monooxygenase 3. More than thirty different defects (mutations) in this gene have been found. A list of these is given at the trimethylaminuria page of the GeneReviews site that can be accessed via genetests.org.

Trimethylamine is derived from dietary precursors such as choline, which is found in many foods such as soya, red meat, and eggs. The bacteria in the gut break down choline and release the small molecule trimethylamine, which is absorbed into the blood and quickly makes its way to the liver. It is here that FMO3 converts trimethylamine into trimethylamine N-oxide, which is then excreted through the kidneys.

The chemical that causes the problem for those who have trimethylaminuria is trimethylamine, because trimethylamine has a very pungent smell. If FMO3 is defective it is not able to convert the trimethylamine to trimethylamine N-oxide (which does not smell). So those that are affected by the disorder excrete excessive amounts of trimethylamine in urine, breath and sweat.

Therefore one of the best ways of managing the disorder is to restrict the intake of food rich in precursors of trimethylamine such as choline.

Contact information:

Cheryl is a Registered Nurse who lives and works in Florida. She can be reached by email at cher850@yahool.com

The University of Colorado Health Sciences Center is located in Denver and can be reached at:

UCHSC

4200 East Ninth Avenue

Denver CO 80262

Ph: 303-315-8175

email contact for testing: susan.tjoa@uchsc.edu

Research study info (for those who have been tested):

Dr. Jaffar Alfardan

Ph: 303-724-2337



You can get more information by contacting the Trimethylaminuria Foundation in NYC.

Trimethylaminuria Foundation

P O Box 3361

Grand Central Station

New York NY 10136

Ph: 212-300-4168

email: thetfnetwk@aol.com