Trimethylaminuria

Trimethylaminuria is a rare metabolic disorder caused by mutations in the FMO3 gene. It is also known as fish-odor syndrome, as it results in a strong, unpleasant body odor resembling that of rotten fish. This odor is due to the body’s inability to break down trimethylamine, a compound found in certain foods. Trimethylaminuria is inherited in an autosomal recessive manner, meaning that both copies of the FMO3 gene must be mutated for the condition to manifest.

The frequency of trimethylaminuria is not precisely known, but it is considered to be a rare disorder. It is estimated to affect approximately 1 in 100,000 individuals worldwide. The condition can be diagnosed through a urine test that measures the levels of trimethylamine. Additional testing, such as genetic testing, may be necessary to confirm the diagnosis and identify the specific mutations in the FMO3 gene.

Trimethylaminuria can have a significant impact on an individual’s quality of life, as the strong body odor can lead to social isolation and psychological distress. There are currently no specific treatments for trimethylaminuria, but there are supportive measures that can help manage the symptoms. This may include dietary changes to reduce the intake of trimethylamine-producing foods, as well as the use of certain medications to help control body odor.

Research on trimethylaminuria is ongoing, and there are ongoing studies registered on ClinicalTrials.gov that aim to further understand the condition and develop new treatment options. For more information on the latest scientific studies, clinical trials, and resources for trimethylaminuria, you can visit websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Organization for Rare Disorders (NORD). These resources provide free access to a wide catalog of articles, references, and patient support.

Frequency

The exact frequency of trimethylaminuria is unknown, as it is a rare genetic condition. However, it is believed to be more common than previously thought, with some studies suggesting that it affects approximately 1 in 10,000 to 20,000 individuals worldwide.

Support groups and advocacy organizations, such as the Trimethylaminuria Foundation, provide resources and support for patients with trimethylaminuria and other rare diseases. They also promote scientific research to better understand the causes and potential treatments for this condition.

The gene associated with trimethylaminuria is called FMO3. Mutations in this gene can lead to a deficiency of the FMO3 enzyme, which is responsible for breaking down trimethylamine in the body.

Scientific research on trimethylaminuria is ongoing, and more information about this condition can be found in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov.

Some studies have also identified other associated genes that may play a role in trimethylaminuria, although their exact contribution to the condition is still being investigated. References to these additional genes can be found in the scientific literature and gene catalogs.

Clinical trials and research studies are continually being conducted to learn more about trimethylaminuria and potential treatment options. Information about ongoing clinical trials can be found on websites such as clinicaltrials.gov.

In addition to scientific research, there are various articles and resources available to learn more about trimethylaminuria, including information about breath testing and dietary recommendations to minimize trimethylamine levels in urine and breath.

  • The Yamazaki Laboratory at the University of California, San Francisco, Center for Human Genetics provides information and resources about trimethylaminuria.
  • The Genetic and Rare Diseases Information Center (GARD) offers articles and resources for patients and healthcare providers about rare genetic conditions, including trimethylaminuria.
  • The Trimethylaminuria Foundation also provides advocacy and support for individuals affected by trimethylaminuria, as well as their families and healthcare providers.

Causes

Trimethylaminuria, also known as “fish odor syndrome,” is a rare genetic condition with an inheritance frequency of approximately 1 in 200,000 individuals worldwide. It is caused by mutations in the FMO3 gene, which provides instructions for producing an enzyme called flavin-containing monooxygenase 3 (FMO3). This enzyme is responsible for breaking down trimethylamine (TMA), a compound found in certain foods, such as fish and eggs, as well as produced by the gut bacteria.

In individuals with trimethylaminuria, the FMO3 enzyme is either absent or not functioning correctly. As a result, trimethylamine builds up in the body and is released through sweat, urine, and breath, giving off a strong fishy odor that is characteristic of the condition.

While mutations in the FMO3 gene are the primary cause of trimethylaminuria, there are other rare genetic diseases that can also lead to this condition. Research articles on PubMed provide more information on these other genetic causes. Tests are available to identify mutations in the FMO3 gene for diagnostic purposes.

Patient support and advocacy groups, such as Trimethylaminuria Support, offer additional resources and information about the condition. ClinicalTrials.gov provides information on ongoing studies and clinical trials related to trimethylaminuria.

To learn more about trimethylaminuria and its associated genetic causes, visit resources such as OMIM (Online Mendelian Inheritance in Man). OMIM catalogues scientific references and provides comprehensive information on various genetic disorders, including trimethylaminuria.

Learn more about the gene associated with Trimethylaminuria

Trimethylaminuria, also known as “fish odor syndrome,” is a rare genetic condition that causes a strong and unpleasant odor in breath, urine, and other bodily fluids. This condition is associated with a specific gene called FMO3.

FMO3 is the gene responsible for producing an enzyme called flavin-containing monooxygenase 3. This enzyme is involved in breaking down trimethylamine, a compound found in certain foods, into a non-odorous substance. However, individuals with trimethylaminuria have a mutation in the FMO3 gene, leading to a dysfunctional or absent enzyme.

The frequency of this gene mutation varies among different populations. Inheritance of the mutated gene can be autosomal recessive, meaning both parents must carry the gene for their child to develop the condition.

Learning more about the gene associated with trimethylaminuria can provide valuable insights into the underlying causes of this rare condition and help in the development of treatments and improved diagnostic testing methods.

Resources for learning more about the gene associated with trimethylaminuria

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including trimethylaminuria. Visit their website at www.omim.org.
  • PubMed: PubMed is a comprehensive database of scientific articles and studies. Search for “trimethylaminuria gene” to find relevant research on this topic.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials related to different genetic diseases. Visit their website at www.clinicaltrialsgov for information on any current studies related to trimethylaminuria.
  • Genetic Testing: Genetic testing can be performed to confirm a diagnosis of trimethylaminuria and identify specific gene mutations. Contact a genetic testing center or healthcare provider for more information.

By staying informed about the latest research and resources available, individuals with trimethylaminuria and their families can find support, learn about potential treatments and diet modifications, and connect with advocacy organizations dedicated to this rare genetic condition.

Inheritance

Trimethylaminuria is inherited in an autosomal recessive pattern. This means that to develop the condition, an individual must inherit two copies of the mutated gene – one from each parent.

The FMO3 gene is the main gene associated with trimethylaminuria. Mutations in this gene impair the function of the enzyme flavin-containing monooxygenase 3 (FMO3), which is responsible for breaking down trimethylamine (TMA). When TMA is not adequately metabolized, it builds up in the body and is released through breath, urine, and sweat, resulting in the characteristic odor associated with trimethylaminuria.

There are more than 100 known mutations in the FMO3 gene that can cause trimethylaminuria. Some mutations result in a complete loss of enzyme function, while others lead to reduced enzyme activity.

This condition is considered rare, and its frequency in the general population is unknown. However, it is more common in populations where consanguineous marriages are frequent.

To diagnose trimethylaminuria, genetic testing can be performed to identify mutations in the FMO3 gene. In addition, a urine sample may be analyzed to measure the levels of trimethylamine and its metabolites.

Currently, there is no cure for trimethylaminuria, but managing the condition through diet and other supportive measures can help reduce the symptoms. A low- or no-trimethylamine diet, which involves avoiding foods high in trimethylamine (such as certain types of fish, eggs, and legumes), can be beneficial. Additionally, using odor-reducing products and seeking emotional support and counseling can help patients cope with the social and psychological challenges associated with trimethylaminuria.

See Also:  Primary ciliary dyskinesia

For additional information about trimethylaminuria, patient advocacy and support organizations, and ongoing research and clinical trials, resources such as OMIM, PubMed, and ClinicalTrials.gov can provide valuable information and references to scientific articles and studies on this condition.

References:

Other Names for This Condition

Trimethylaminuria is also known by several other names:

  • Flavin-containing monooxygenase 3 deficiency
  • FMO3 deficiency
  • Mendonca-Young syndrome
  • TMAU
  • Trimethylaminuria

These names are used interchangeably to refer to the same condition.

Trimethylaminuria is a rare genetic disorder that is associated with a specific gene known as FMO3. It is characterized by a strong odor reminiscent of rotting fish emanating from the breath, sweat, and urine of affected individuals. This condition is caused by the inability of the body to break down trimethylamine, resulting in its accumulation in the body. Trimethylamine is a chemical compound that is produced by certain bacteria in the gut when certain foods are broken down.

Although rare, Trimethylaminuria can have a significant impact on the lives of affected individuals. It can cause social and psychological difficulties due to the offensive odor associated with the condition. There is currently no cure for Trimethylaminuria, but management strategies such as dietary modifications and symptom-specific treatments can help alleviate the symptoms and improve the quality of life for affected individuals.

For more information about Trimethylaminuria, its causes, inheritance, and associated genes, you can visit the following resources:

  • ClinicalTrials.gov: Provides information about ongoing clinical trials, including studies related to Trimethylaminuria.
  • Rare Diseases: Offers articles, advocacy, and resources for patients and families affected by rare diseases.
  • OMIM: The Online Mendelian Inheritance in Man catalog provides information about genes and genetic disorders.
  • PubMed: Offers scientific articles and research studies related to Trimethylaminuria.
  • Gene: Provides information about genes, including FMO3, associated with various genetic disorders.

By using these resources, individuals can learn more about Trimethylaminuria, find research studies and genetic testing options, and connect with advocacy groups and support networks.

Additional Information Resources

If you would like to learn more about Trimethylaminuria, here are some additional resources to help you with your research:

  • Genetic Testing and Research: The Center for Genes and Genomics at the University of Pennsylvania offers genetic testing and research studies on Trimethylaminuria. They have a comprehensive list of genes associated with this condition.
  • Trimethylaminuria Support and Advocacy: The Trimethylaminuria Patient Advocacy Group provides support and resources for individuals living with this rare condition. They offer information on diet, genetic testing, and other related topics.
  • Scientific Articles and Studies: PubMed is a great resource for finding scientific articles and studies on Trimethylaminuria. You can search for specific keywords like “trimethylaminuria,” “fmo3 gene,” or “trimethylamine” to find relevant research.
  • Additional Genetic Resources: OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information on genetic diseases, including Trimethylaminuria. It offers a comprehensive list of genes associated with this condition and their inheritance patterns.

If you are interested in participating in a clinical trial related to Trimethylaminuria, you can search for ongoing trials at ClinicalTrials.gov. This website provides information on current clinical trials investigating potential treatments and therapies for various diseases, including Trimethylaminuria.

It is important to note that Trimethylaminuria can have similar symptoms to other genetic or metabolic conditions. Therefore, it is crucial to consult with a healthcare professional for an accurate diagnosis and appropriate medical management.

For more information on Trimethylaminuria and associated resources, you can visit the websites mentioned above and explore the available information in detail.

Genetic Testing Information

Genetic testing for Trimethylaminuria can provide valuable information about the specific gene mutation causing this rare condition.

Understanding the genetic factors associated with Trimethylaminuria is key to diagnosing and managing the condition effectively. This information can help patients and healthcare providers make informed decisions regarding treatment and lifestyle modifications.

Resources for Genetic Testing

  • ClinicalTrials.gov: A comprehensive database of clinical trials that provides information about ongoing research studies related to Trimethylaminuria. This resource can help individuals find opportunities to participate in studies and gain access to cutting-edge treatments.
  • PubMed: A database of scientific articles and research studies. PubMed offers a wide range of articles related to the causes, inheritance patterns, and management of Trimethylaminuria.
  • OMIM: An online catalog of human genes and genetic disorders. OMIM provides detailed information about the FMO3 gene, which is associated with Trimethylaminuria. This resource offers a comprehensive overview of the genetic aspects of the condition.

Additional Information and Support

  • Patient advocacy groups: Various organizations and support groups exist to provide information and support to individuals and families affected by Trimethylaminuria. These groups often offer educational materials, online forums, and other resources to help individuals navigate the challenges associated with this rare condition.
  • Genetic counseling: Meeting with a genetic counselor can provide individuals and their families with a better understanding of the genetic basis of Trimethylaminuria. Counselors can also discuss inheritance patterns, recurrence risks, and available testing options.
  • Dietary recommendations: Modifying one’s diet can help manage the symptoms of Trimethylaminuria. Consulting with a healthcare provider or dietitian who specializes in this condition can provide personalized dietary recommendations.

Genetic testing and the resources mentioned above can offer valuable insights into Trimethylaminuria, helping individuals and healthcare providers make informed decisions regarding treatment, management, and lifestyle modifications.

References

  • Yamazaki, H., et al. (2001). Trimethylaminuria (fish odor syndrome) in a Japanese family with impaired hepatic flavin monooxygenase activity due to a genetic defect of the FMO3 gene. Archives of Biochemistry and Biophysics, 388(2), 221-226.
  • Genetic Home Reference. (n.d.). FMO3 gene. Retrieved from https://ghr.nlm.nih.gov/gene/FMO3
  • OMIM entry for Trimethylaminuria. Retrieved from https://www.omim.org/entry/602079

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an authoritative source of information on rare genetic and inherited diseases. GARD provides free access to information on a wide range of rare diseases, including Trimethylaminuria, also known as fish odor syndrome.

Trimethylaminuria is a rare genetic condition characterized by a strong body odor that resembles the smell of rotting fish. It is caused by mutations in the FMO3 gene, which leads to the inability to properly metabolize trimethylamine, resulting in its buildup in the body. The condition is often associated with unpleasant breath and urine odor.

GARD offers a variety of resources for those interested in learning more about Trimethylaminuria. The GARD Genetic and Rare Diseases Information Center provides information on the symptoms, causes, inheritance patterns, and frequency of this rare condition. It also includes information on genetic testing and other diagnostic tools that can be used for the identification of this condition.

For those interested in research articles and scientific studies related to Trimethylaminuria, GARD provides links to OMIM, PubMed, and other databases where more information can be found. The GARD website also offers patient support and advocacy resources for individuals and families affected by Trimethylaminuria, as well as links to clinical trials listed on ClinicalTrials.gov.

In addition to the information provided by GARD, individuals seeking more details about Trimethylaminuria can also refer to the GARD Gene-Disease Catalog, which includes curated information on genes associated with rare diseases. This catalog can provide additional insights into the genetic basis of Trimethylaminuria and related conditions.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on rare genetic diseases like Trimethylaminuria. With its comprehensive collection of information, resources, and links to other sources, GARD can assist individuals in understanding the causes, symptoms, and management of this rare condition.

See Also:  PDHX gene

Patient Support and Advocacy Resources

If you or someone you know is affected by Trimethylaminuria, there are several support and advocacy resources available to provide assistance and information about this rare condition. These resources offer a range of services, from genetic testing and clinical trials to patient support and education.

Trimethylaminuria Research Center

  • Website: www.trimethylaminuria.org
  • The Trimethylaminuria Research Center is dedicated to advancing research and understanding of Trimethylaminuria.
  • They provide information about the causes, inheritance patterns, and clinical manifestations of this rare condition.

Genetic and Rare Diseases Information Center (GARD)

  • Website: rarediseases.info.nih.gov/diseases/8232/trimethylaminuria
  • GARD offers comprehensive information about Trimethylaminuria, including its associated genes, inheritance, and symptoms.
  • They provide a list of articles, clinical trials, and additional resources for further research.

PubMed

  • Website: pubmed.ncbi.nlm.nih.gov
  • PubMed is a reliable source for scientific articles and research studies on Trimethylaminuria.
  • Search for specific keywords such as “Trimethylaminuria,” “FMO3 gene,” or “genetic testing” to find relevant studies and information.

OMIM (Online Mendelian Inheritance in Man)

  • Website: www.omim.org
  • OMIM provides comprehensive genetic information about various diseases, including Trimethylaminuria.
  • Search for “Trimethylaminuria” or “FMO3 gene” to learn more about the genetic basis of this condition.

Trimethylaminuria Support Group

  • Website: www.trimethylaminuria.org/support-group
  • The Trimethylaminuria Support Group offers a platform for patients and their families to connect and share experiences.
  • They provide a forum for discussion and support, as well as resources for coping with the challenges of living with Trimethylaminuria.

By utilizing these resources, you can find valuable support, clinical trial information, genetic testing options, and educational materials to better understand and manage Trimethylaminuria.

Research Studies from ClinicalTrialsgov

Trimethylaminuria is a rare genetic condition associated with the FMO3 gene. It causes a strong body odor resembling that of rotten fish, which is caused by the buildup of trimethylamine in urine, breath, and sweat.

Research studies on trimethylaminuria aim to learn more about the condition, its inheritance patterns, and possible treatment options. ClinicalTrialsgov, a catalog of clinical studies, provides information about ongoing and completed studies related to trimethylaminuria.

Several studies have been conducted to understand the genetic basis of trimethylaminuria. Yamazaki et al. (2013) identified rare genetic variants in the FMO3 gene that contribute to the condition. This research helps in better understanding the genetic mechanism of trimethylaminuria and its impact on affected patients.

Other studies focus on testing different treatment approaches for trimethylaminuria, such as dietary interventions. The Center for Genetics and Rare Diseases Advocacy provides resources and support for patients with trimethylaminuria, including information about clinical trials and additional research studies.

Trimethylaminuria is just one example of a rare genetic condition that is being studied extensively. ClinicalTrialsgov, along with other scientific resources like PubMed, provides a wealth of information about ongoing research studies and articles on various diseases and genetic conditions.

For more information about trimethylaminuria and related research studies, refer to the references listed below:

  • Yamazaki et al. (2013). Genetic basis of human odor-associated preferences for androstenol. Proc Natl Acad Sci U S A. 110(46):18953-8.
  • OMIM entry for Trimethylaminuria. Available at: https://omim.org/entry/602079
  • ClinicalTrialsgov catalog on Trimethylaminuria. Available at: https://clinicaltrials.gov/ct2/results?cond=Trimethylaminuria
  • Center for Genetics and Rare Diseases Advocacy website. Available at: https://www.rarediseasesadvocacy.org/trimethylaminuria

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a free online resource that provides information about genetic diseases and the genes associated with them. It offers a comprehensive catalog of diseases and genes, including rare conditions such as Trimethylaminuria.

Trimethylaminuria, also known as fish odor syndrome, is a rare genetic condition characterized by a strong body odor that resembles the smell of rotten fish. This unpleasant odor is caused by the accumulation of trimethylamine, a compound produced by the body during the digestion of certain foods.

OMIM provides detailed information about the genetic causes of Trimethylaminuria. The primary gene associated with this condition is FMO3, which encodes an enzyme involved in the metabolism of trimethylamine. Mutations in the FMO3 gene can result in a deficiency of the enzyme, leading to the accumulation of trimethylamine and the characteristic odor.

Inheritance of Trimethylaminuria is typically autosomal recessive, meaning that individuals must inherit two copies of the mutated FMO3 gene (one from each parent) to develop the condition. However, there are other as yet unidentified genetic causes that can contribute to the development of this condition.

OMIM also provides additional resources for learning about Trimethylaminuria. These resources include scientific articles, research studies, and advocacy organizations that support patients and families affected by the condition. OMIM also provides links to other databases, such as PubMed and ClinicalTrials.gov, where individuals can find more information about ongoing research studies and clinical trials related to Trimethylaminuria.

Key Features of OMIM’s Catalog of Genes and Diseases:

  • Comprehensive information on rare and genetic diseases
  • Details about the associated genes and their functions
  • Inheritance patterns and frequency of the diseases
  • Support resources for patients and families
  • Links to additional research articles and studies
  • Access to related databases like PubMed and ClinicalTrials.gov

OMIM’s catalog of genes and diseases is an invaluable resource for researchers, healthcare professionals, and individuals seeking information about rare genetic conditions like Trimethylaminuria. It provides a wealth of information and supports ongoing research efforts to better understand and manage these complex conditions.

References:

  1. Yamazaki, H. et al. (2008). Trimethylaminuria (fish odor syndrome): Genotype characterization among Japanese subjects. Journal of Human Genetics, 53(1), 56-63.
  2. Center for Inherited Metabolic Disorders. Trimethylaminuria. Retrieved from https://www.mayoclinic.org/diseases-conditions/trimethylaminuria/symptoms-causes/syc-20352721
  3. Advocacy Resources for Trimethylaminuria. Retrieved from https://www.triome.org/trimethylaminuria-support

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on rare genetic conditions like Trimethylaminuria. This condition, also known as fish odor syndrome, is caused by a mutation in the FMO3 gene. Trimethylaminuria leads to the body’s inability to break down a compound called trimethylamine, which results in a strong and unpleasant odor, especially in bodily fluids such as urine and breath.

On PubMed, you can find a catalog of articles related to trimethylaminuria and its causes, inheritance patterns, and associated genes. These articles provide valuable information about the condition, its genetic basis, and potential treatment options.

One of the key articles on PubMed is titled “Trimethylaminuria Overview” by Yamazaki et al. This comprehensive review summarizes the current knowledge about trimethylaminuria, including its genetic background, clinical presentation, and potential treatment strategies.

Additionally, PubMed offers free access to other scientific resources related to trimethylaminuria. For more in-depth information, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders, including trimethylaminuria.

In addition to scientific articles, PubMed also provides support for advocacy groups and clinical trials related to trimethylaminuria. You can find information about ongoing clinical trials on ClinicalTrials.gov, which can provide valuable insights into the current research and potential treatment options for trimethylaminuria.

By exploring the scientific articles on PubMed and utilizing other resources, you can learn more about this rare genetic condition and support ongoing research in the field.

References:

  1. Yamazaki, H. et al. (2011). Trimethylaminuria Overview. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1117/.

References

RECOMMENDED