Excerpt:
Unexplained body odor may stem from rare genetic disorder
People whose bodies or breath are foul-smelling despite their good hygiene have a frustrating lot in life: Their social lives and careers may be hindered by their fear of offending others with their odor, yet they don’t know what to do to make themselves smell better.
But new research may lead to relief for some who suffer from such chronic malodor.
Researchers at the Monell Chemical Senses Center tested 353 people who had sought help in understanding and dealing with the odors their bodies produced. Through a simple test, the scientists learned that about a third of them had a rare, but treatable, genetic disorder called trimethylaminuria. People with this condition lack the enzyme required to properly metabolize trimethylamine, a substance found in many common foods.
Healthy people’s bodies break down trimethylamine into smaller compounds that are then excreted through urine. But for those with trimethylaminuria, the substance remains in the body, causing them to exude a fishy smell through their breath, saliva, sweat and urine.
Trimethylaminuria is hard to diagnose without specialized tests, in part because the foul smell may come and go — body odor related to the condition depends largely on what the patient has eaten lately. The disorder is often not detectable during medical examinations.
Fortunately, once diagnosed, trimethylaminuria can be treated through dietary changes and sometimes through use of antibiotics to combat bacteria in the gut that might contribute to the odor problem.
Avoiding foods containing trimethylamine or its precursor choline can reduce body odor related to the condition. Those foods include milk from wheat-fed cows, eggs, organ meats, peas, beans, peanuts, soy products, brussels sprouts, broccoli, cabbage, cauliflower and some seafood.
An estimated 1 percent to 11 percent of the population may have trimethylaminuria, notes the study, published in August in the American Journal of Medicine. If you have a body odor problem you’d like to have diagnosed or to get more information about trimethylaminuria, contact Monell at bodyodorinfo@monell.org.
But new research may lead to relief for some who suffer from such chronic malodor.
Researchers at the Monell Chemical Senses Center tested 353 people who had sought help in understanding and dealing with the odors their bodies produced. Through a simple test, the scientists learned that about a third of them had a rare, but treatable, genetic disorder called trimethylaminuria. People with this condition lack the enzyme required to properly metabolize trimethylamine, a substance found in many common foods.
Healthy people’s bodies break down trimethylamine into smaller compounds that are then excreted through urine. But for those with trimethylaminuria, the substance remains in the body, causing them to exude a fishy smell through their breath, saliva, sweat and urine.
Trimethylaminuria is hard to diagnose without specialized tests, in part because the foul smell may come and go — body odor related to the condition depends largely on what the patient has eaten lately. The disorder is often not detectable during medical examinations.
Fortunately, once diagnosed, trimethylaminuria can be treated through dietary changes and sometimes through use of antibiotics to combat bacteria in the gut that might contribute to the odor problem.
Avoiding foods containing trimethylamine or its precursor choline can reduce body odor related to the condition. Those foods include milk from wheat-fed cows, eggs, organ meats, peas, beans, peanuts, soy products, brussels sprouts, broccoli, cabbage, cauliflower and some seafood.
An estimated 1 percent to 11 percent of the population may have trimethylaminuria, notes the study, published in August in the American Journal of Medicine. If you have a body odor problem you’d like to have diagnosed or to get more information about trimethylaminuria, contact Monell at bodyodorinfo@monell.org.
By | 07:00 AM ET, 09/02/2011
http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=6447
Excerpt:
http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=6447
Excerpt:
- What is trimethylaminuria?
- What are the signs and symptoms of trimethylaminuria?
- What causes trimethylaminuria?
- How might trimethylaminuria be treated?
- Is trimethylaminuria inherited?
- What is trimethylaminuria? (Back to Top)
- Trimethylaminuria is a metabolic disorder in which an individual is not able to break down trimethylamine into smaller compounds. Trimethylamine is the compound that gives fish their fishy odor. Trimethylaminuria, has been around for centuries, but has only gained scientific recognition and support in the past 30 years.[1]
- Last Reviewed: 7/21/2010
- What are the signs and symptoms of trimethylaminuria? (Back to Top)
- Trimethylamine accumulates in the body of patients with trimethylaminuria. The trimethylamine gets released in the person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy odor. Some people with trimethylaminuria have a strong odor all the time, but most have a moderate smell that varies in intensity over time. Individuals with this condition do not have any physical symptoms, and typically appear healthy.[2]
- Last Reviewed: 7/21/2010
- What causes trimethylaminuria? (Back to Top)
- People with trimethylaminuria lack the enzyme flavin-containing monooxygenase 3 (FMO3), which is produced by the liver and is part of a family of similar enzymes responsible for breaking down compounds that contain nitrogen, sulfur, or phosphorous.[3] This enzyme is produced by the FMO3 gene. Not all of the functions of the FMO3 enzyme are known, so physicians don't know what other symptoms besides odor may be associated with trimethylaminuria.[1][2]
- Last Reviewed: 7/21/2010
- How might trimethylaminuria be treated? (Back to Top)
- Although there is no cure for trimethylaminuria, it is possible for people with this condition to live normal, healthy lives. The following are some ways a person with trimethylaminuria can reduce symptoms of odor [3]:
- Avoiding foods containing trimethylamine and its precursors (choline and trimethylamine-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; brassicas (brussel sprouts, broccoli, cabbage, and cauliflower); and lecithin and lecithin-containing fish oil supplements. Trimethylamine N-oxide is present in seafood (fish, cephalopods, crustaceans). Freshwater fish have lower levels of trimethylamine N-oxide.
- Taking low doses of antibiotics to reduce the amount of bacteria in the gut. This suppresses the production of trimethylamine.
- Taking laxatives can decrease intestinal transit time and reduce the amount of trimethylamine produced in the gut.
- Taking supplements to decrease the concentration of free 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 retain the secreted trimethylamine in a less volatile form that can be removed by washing.
- Taking riboflavin (vitamin B2) supplements to enhance any residual FMO3 enzyme activity. 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.
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.[1]
People with trimethylaminuria may also find the following to be helpful [1]:
- 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 the next generation. Visit the Services section to find a list of online resources that can assist you in finding a genetics clinic near you.
- Last Reviewed: 7/21/2010
- Is trimethylaminuria inherited? (Back to Top)
- Yes. Trimethylaminuria is usually inherited in an autosomal recessive fashion, which means that two mutated (faulty) genes are usually needed for a person to have symptoms. Both parents of an individual with trimethylaminuria are “carriers” of the condition, in other words, they both carry one copy of an altered gene for trimethylaminuria.[1]
Since this condition usually requires two altered genes to cause symptoms, typically neither parent of an individual with trimethylaminuria have 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.[1] There are several mutations, or alterations in the gene that is associated with autosomal recessively inherited trimethylaminuria. Most of the mutations are nonsense mutations in the 1q23-q25 region of chromosome 1, where the gene that codes for flavin-containing monooxygenase 3 (FMO3) is located. FMO3 is the enzyme involved in breaking down trimethylamine (the compound responsible for the fish odor). Due to the variability of symptoms people with trimethylaminuria experience, researchers hypothesize that a variety of genetic mutations that have not yet been discovered can influence the symptoms of the disease, affecting time of onset and how strong the odor is. They also suspect that stress and diet play a role in triggering symptoms.[1][2][3] - Last Reviewed: 7/21/2010
References (Back)
- Learning about Trimethylaminuria. National Human Genome Research Institute Web site. 2009 Available at: http:/
/ . Accessed July 21, 2010.www.genome.gov/ 11508983 - Trimethylaminuria. Genetics Home Reference Web site. April 2007 Available at: http:/
/ . Accessed July 21, 2010.ghr.nlm.nih.gov/ condition=trimethylaminuria - Phillips IR, Shephard EA. Trimethylaminuria. GeneReviews Web site. March 18, 2008 Available at: http:/
/ . Accessed July 21, 2010.www.ncbi.nlm.nih.gov/ bookshelf/ br.fcgi?book=gene&part=trimethylaminuria
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