Trimethylaminuria

Información en español Title

Other Names:

TMAU; Fish odor syndrome; Fish malodor syndrome; TMAU; Fish odor syndrome; Fish malodor syndrome; Stale fish syndrome; TMAuria See More

Categories:

Metabolic disorders

Summary Summary

Trimethylaminuria is a metabolic disorder that occurs when the body is unable to break down certain nitrogen-containing compounds such as trimethylamine. Trimethylamine, which has a fishy odor, is produced in the intestines when certain types of food (i.e. eggs, liver, legumes, fish and some vegetables) are digested. As trimethylamine begins to accumulate in the body, it is released in the sweat, urine, reproductive fluids, and breath. This leads to the characteristic odor of trimethylaminuria. Affected individuals are normal and healthy; however, the unpleasant odor often results in social and psychological problems. This condition is caused by changes (mutations) in the FMO3 gene and is inherited in an autosomal recessive manner. Although there is no cure, trimethylaminuria can often be managed by reducing the amount of trimethylamine in the body. For example, affected people can modify their diet to avoid foods with high levels of trimethylamine.^[1]^[2]

Last updated: 9/6/2016

Symptoms Symptoms

Trimethylaminuria is characterized primarily by a fishy odor that occurs when excess trimethylamine is released in the person's sweat, urine, reproductive fluids, and breath. Although some affected people may have a constant strong odor, most have a moderate odor that can vary in intensity. For example, the odor may be more severe just before and during menstruation in women. Factors that promote sweating, such as exercise, stress, and emotional upsets, may also worsen the odor.^[1]^[2]

Affected people typically do not have any additional signs and symptoms and appear healthy. However, the odor can interfere with many aspects of daily life, leading to social and psychological problems.^[1]^[2]

Last updated: 3/25/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Anemia	-
Autosomal recessive inheritance	-
Depression	-
Hypertension	-
Neutropenia	-
Recurrent pneumonia	-
Splenomegaly	-
Tachycardia	-
Trimethylaminuria	-

Last updated: 9/1/2016

Cause Cause

Most cases of trimethylaminuria are caused by changes (mutations) in the FMO3 gene. This gene encodes an enzyme that is responsible for breaking down certain nitrogen-containing compounds such as trimethylamine. Trimethylamine is produced in the intestines when certain types of food (i.e. eggs, liver, legumes, fish and some vegetables) are digested. A mutation in this gene prevents the enzyme from working properly, so it is unable to break down compounds like trimethylamine. As trimethylamine begins to build up in the body, it is released in a person's sweat, urine, and breath. Because trimethylamine has a fishy odor, this leads to the characteristic features of trimethylaminuria.^[1]

Last updated: 9/6/2016

Inheritance Inheritance

Trimethylaminuria is usually inherited in an autosomal recessive manner.^[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition, although carriers of trimethylaminuria may experience mild symptoms or have temporary episodes of fish-like odor.^[3] When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated: 9/6/2016

Diagnosis Diagnosis

Yes, genetic testing is available for FMO3, the gene known to cause trimethylaminuria.^[2] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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.

Last updated: 3/26/2015

A diagnosis of trimethylaminuria is often suspected based on the presence of characteristic signs and symptoms. A urine test and/or genetic testing for a change (mutation) in the FMO3 gene can then be ordered to confirm the diagnosis. The urine test measures the level of trimethylamine in the urine when the person is on a non-restricted diet or following a choline challenge (a person is given a dose of choline by mouth prior to the test). People with trimethylaminuria have elevated levels of trimethylamine in the urine.^[2]^[4]

GeneReviews offers more specific information about the diagnosis of trimethylaminuria. To access this resource, please click here.

Last updated: 9/6/2016

Testing Resources

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.
The Monell Chemical Senses Center is able to assist in the diagnostic testing of patients who may have trimethylaminuria. Monell is a non-profit, basic scientific research center focused on understanding the senses of taste and smell. They are not a medical clinic. If you are interested in more information, you can send an e-mail to bodyodorinfo@monell.org. The Information Center provides the names of these centers for informational purposes only, not as an endorsement of the institutions' products or services.

Treatment Treatment

Although there is no cure for trimethylaminuria, the following are some ways to reduce symptoms of odor:^[3]^[2]

Avoidance of foods that contain trimethylamine and its precursors (choline, lecithin, 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, brussels sprouts, broccoli, cabbage, and cauliflower. Trimethylamine N-oxide is present in seafood
Low doses of antibiotics. This decreases the amount of trimethylamine that is made by bacteria in the intestines
Laxatives can decrease the amount of time food remains in the intestines and reduce the amount of trimethylamine made
Nutritional supplements (activated charcoal and copper chlorophyllin) can decrease the concentration of trimethylamine in the urine
Soaps with a moderate pH (between 5.5 and 6.5) can help remove the secreted trimethylamine
Riboflavin (vitamin B2) supplements can enhance any existing FMO3 enzyme activity (which breaks down trimethylamine)
Avoidance of exercise, stress, emotional upsets, and other factors that can promote sweating

People with trimethylaminuria may also find the following to be helpful:^[3]

Behavioral counseling to help with depression and other psychological symptoms
Genetic counseling to better understand how they developed trimethylaminuria and the risks of passing the condition on to their children

NOTE: People 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.

Last updated: 3/26/2015

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Prognosis Prognosis

In general, the long-term outlook (prognosis) for people with trimethylaminuria is good. Affected people have a normal life expectancy and aside from the fishy odor, the condition is typically not associated with other health problems.

Although some cases (especially those that are mild or moderate) can be successfully managed with a restricted diet, the odor can interfere with aspects of daily life. Consequently, many people affected by this condition struggle with depression and other psychological problems.^[2]^[1]

Last updated: 9/6/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

MEBO Research: Systemic Body Odor and Halitosis
Toll-free: 0800 0588015 (UK)
Telephone: 786-228-6880 (USA)
E-mail: info@meboresearch.org
Website: http://meboresearch.org

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Trimethylaminuria. This website is maintained by the National Library of Medicine.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Trimethylaminuria. Click on the link to view a sample search on this topic.

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GARD Information Navigator
May 10, 2016

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After questioning our doctor as to why our son occasionally had a fishy smell, our son was diagnosed as a carrier of trimethylaminuria. Through genetic testing, it was identified that he has a heterozygous mutation. This obviously means that at least either myself or my husband is a carrier also. What are the carrier incidence rates? I am currently pregnant and am wondering what the chances are that future children could have the full syndrome. In other words, what are the chances that the both my husband and I are carriers? See answer
My daughter is 9 months old and has Down syndrome. She also has a strong, fish-like odor coming from the mouth. Is it possible that she could also have trimethylaminuria? How might a person be tested for this condition? See answer
Although 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? See answer