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Thiamine-responsive megaloblastic anemia syndrome, also known as Oishi syndrome, is a rare genetic condition that affects the body’s ability to properly process and use thiamine, or vitamin B1. This condition was first described by Oishi in 1985 and has since been the subject of numerous articles and studies.

Thiamine-responsive megaloblastic anemia syndrome is associated with mutations in the SLC19A2 gene, which codes for a thiamine transporter protein. These mutations result in a decrease in the amount of thiamine that can enter into the cells, leading to a deficiency in this essential nutrient.

Most patients with thiamine-responsive megaloblastic anemia syndrome present with symptoms such as anemia, enlarged red blood cells (megaloblastic anemia), and other abnormalities related to the cardiovascular and central nervous systems. The severity and range of symptoms can vary among affected individuals.

Diagnosis of thiamine-responsive megaloblastic anemia syndrome can be challenging, as it requires specialized testing to identify the genetic mutations in the SLC19A2 gene. The frequency of this condition in the general population is not well established, but it is considered to be rare.

Treatment for thiamine-responsive megaloblastic anemia syndrome involves thiamine supplementation, which can help alleviate the symptoms and restore normal thiamine levels in the body. Regular monitoring and follow-up care are essential for optimal management of this condition.

Advances in scientific research and genetic testing have provided valuable information about thiamine-responsive megaloblastic anemia syndrome. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer additional articles and references for those interested in learning more about this rare genetic condition and its associated genes.

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Frequency

Thiamine-responsive megaloblastic anemia syndrome is a rare condition. The frequency of this condition is not well established, as it is often underdiagnosed or misdiagnosed. However, studies have reported that this syndrome occurs in approximately 1 in 200,000 to 1 in 400,000 individuals worldwide.

Thiamine-responsive megaloblastic anemia syndrome can occur in individuals of different ethnic backgrounds; however, it is more commonly reported in individuals of Japanese descent. In Japan, this condition is referred to as “Oishi syndrome,” named after Dr. Tsukasa Oishi, who first described it in 1973.

Thiamine-responsive megaloblastic anemia syndrome is caused by mutations in the SLC19A2 gene, which provides instructions for making a thiamine transporter protein. Mutations in this gene impair the function of the transporter protein, leading to a deficiency of thiamine (vitamin B1) in the body.

Genetic testing is available to confirm a diagnosis of thiamine-responsive megaloblastic anemia syndrome. If a mutation in the SLC19A2 gene is identified, additional testing may be recommended to assess the impact of the mutation on the function of the thiamine transporter.

Heart abnormalities, including cardiomyopathy and heart failure, have been reported in some individuals with thiamine-responsive megaloblastic anemia syndrome. Regular monitoring and appropriate treatment are important to support the heart health of affected individuals.

It is essential to differentiate thiamine-responsive megaloblastic anemia syndrome from other causes of genetic megaloblastic anemia. Genetic counseling and genetic testing are crucial for an accurate diagnosis and to provide appropriate information and support to the patient and families.

For more information about thiamine-responsive megaloblastic anemia syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog, which offers a comprehensive database of information on genetic diseases.

Additionally, there are advocacy and support resources available for patients and families affected by this rare condition. Scientific articles and research on thiamine-responsive megaloblastic anemia syndrome are also valuable resources for learning and understanding more about this genetic disease.

References:

  1. Oishi, K. Thiamine-responsive megaloblastic anaemia: a syndrome associating diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Ann Pediatr Endocrinol Metab. 2016;21(1):1-5.
  2. Bergmann, A.K., et al. Genetics of autoimmune polyendocrine syndrome type 1. Endocr Rev. 2017;38(8):706-752.
  3. Belmont, J.W. Genetic control of immune responsiveness: human embryo-fetal development. Oral Dis. 2011;17(2):139-151.

Causes

Thiamine-responsive megaloblastic anemia syndrome is a rare genetic condition that is caused by mutations in the SLC19A2 gene. This gene provides instructions for making a protein called the thiamine transporter 1. This protein is involved in the transport of thiamine (vitamin B1) across cell membranes, which is essential for various bodily processes.

In individuals with thiamine-responsive megaloblastic anemia syndrome, mutations in the SLC19A2 gene impair the function of the thiamine transporter 1 protein. As a result, thiamine cannot be properly transported into cells, leading to a deficiency of thiamine in the body.

The exact frequency of thiamine-responsive megaloblastic anemia syndrome is unknown, but it is considered to be a rare condition. It has been reported in individuals of various ethnic backgrounds.

This genetic condition is inherited in an autosomal recessive pattern, which means that both copies of the SLC19A2 gene in each cell have mutations. An affected person inherits one mutated copy of the gene from each parent, who are usually unaffected carriers of the condition.

Thiamine-responsive megaloblastic anemia syndrome is often associated with other diseases and conditions, such as diabetes and heart defects. The specific signs and symptoms of the syndrome can vary widely among affected individuals.

Diagnosis of thiamine-responsive megaloblastic anemia syndrome can be confirmed through genetic testing of the SLC19A2 gene. This testing can help identify the specific mutations in the gene that are causing the condition.

See also  Malonyl-CoA decarboxylase deficiency

For additional information on thiamine-responsive megaloblastic anemia syndrome, you can consult the following resources:

Learn more about the gene associated with Thiamine-responsive megaloblastic anemia syndrome

Thiamine-responsive megaloblastic anemia syndrome is a rare genetic condition that affects the body’s ability to process thiamine, a B-vitamin essential for energy production. This syndrome is primarily caused by mutations in the SLC19A2 gene.

The SLC19A2 gene provides instructions for making a protein called the thiamine transporter 1, which is responsible for importing thiamine into cells. Mutations in this gene can disrupt the function of the thiamine transporter 1 protein, leading to decreased thiamine levels in the body.

Thiamine-responsive megaloblastic anemia syndrome is characterized by a variety of symptoms, including megaloblastic anemia (a condition in which the bone marrow produces abnormally large and immature red blood cells), neurological problems, and heart defects. It is most commonly diagnosed in early childhood.

If you or someone you know has been diagnosed with Thiamine-responsive megaloblastic anemia syndrome, it is important to seek support and additional information about the condition. Below are some resources that may be helpful:

  • Scientific articles: The scientific community has published several articles about Thiamine-responsive megaloblastic anemia syndrome. These articles can provide in-depth information about the genetics, inheritance pattern, and treatment options for the condition. Some articles may require a subscription or purchase, but others may be available for free.
  • OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about various genetic diseases, including Thiamine-responsive megaloblastic anemia syndrome. The database includes detailed gene descriptions, inheritance patterns, clinical features, and references to scientific articles.
  • PubMed: PubMed is a valuable resource for accessing scientific literature. By searching for “Thiamine-responsive megaloblastic anemia syndrome” and related keywords, you can find a range of articles on the topic. Some articles may be directly relevant to the gene associated with the condition.
  • Support groups and advocacy organizations: There are various support groups and advocacy organizations dedicated to providing information, support, and resources for individuals and families affected by Thiamine-responsive megaloblastic anemia syndrome. These organizations can connect you with other individuals or families facing similar challenges and provide information about available support services.
  • Genetic testing: Genetic testing can confirm a diagnosis of Thiamine-responsive megaloblastic anemia syndrome and identify the specific gene mutation causing the condition. It is recommended to consult with a genetic counselor or healthcare professional to discuss the benefits, limitations, and costs associated with genetic testing.

Learning more about the gene associated with Thiamine-responsive megaloblastic anemia syndrome can help individuals and families understand the condition better and access appropriate support and resources. Remember to consult with a healthcare professional for personalized advice and guidance.

Inheritance

Thiamine-responsive megaloblastic anemia syndrome is a rare genetic condition that is inherited in an autosomal recessive pattern. This means that both copies of the gene responsible for the condition must be altered in order for an individual to develop the syndrome.

The condition is caused by mutations in the SLC19A2 gene, which encodes for the thiamine transporter protein. These mutations result in impaired transport of thiamine into cells, leading to the characteristic symptoms of megaloblastic anemia and other associated features.

The frequency of this condition in the general population is not well known, but it is considered rare. It has been reported in individuals from various ethnic backgrounds.

Genetic testing can confirm a diagnosis of thiamine-responsive megaloblastic anemia syndrome. This testing can be performed through specialized laboratories and is typically recommended for individuals with a suspected or confirmed diagnosis of the condition. Testing for other genetic diseases that may have similar symptoms can also be considered.

For more information about the inheritance and genetics of this condition, you can visit the OMIM catalog at https://omim.org. The OMIM entry for thiamine-responsive megaloblastic anemia syndrome provides detailed information about the associated genes, inheritance patterns, and references to scientific articles and other resources.

Additional resources, such as patient advocacy organizations, can provide support and information about the condition. Some of these organizations include the Oishi Heart Center, which has a comprehensive catalog of information on rare genetic diseases, and PubMed, which is a trusted source for scientific articles.

Other Names for This Condition

  • Thiamine-responsive megaloblastic anemia syndrome
  • Thiamine transporter 2 deficiency
  • Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
  • TRMA syndrome
  • TTF1

Thiamine-responsive megaloblastic anemia syndrome, also known as thiamine transporter 2 deficiency or TRMA syndrome, is a rare genetic condition associated with mutations in the SLC19A2 gene. This gene provides instructions for making a protein called thiamine transporter 2, which is responsible for transporting thiamine (vitamin B1) into cells. Thiamine is an essential nutrient that plays a crucial role in energy production and the proper functioning of various organs and tissues in the body.

People with thiamine-responsive megaloblastic anemia syndrome have mutations in both copies of the SLC19A2 gene, resulting in a deficiency of functional thiamine transporter 2 protein. This deficiency impairs the uptake of thiamine into cells, leading to a decrease in thiamine levels and subsequent health problems.

The main features of this condition include megaloblastic anemia, which is a type of anemia characterized by the production of abnormally large red blood cells, and diabetes mellitus, which is a condition characterized by high blood sugar levels. Sensorineural deafness, or hearing loss, is also commonly associated with thiamine-responsive megaloblastic anemia syndrome.

The prevalence of this condition is unknown, but it is considered to be a rare disease. Thiamine-responsive megaloblastic anemia syndrome is inherited in an autosomal recessive pattern, which means that both copies of the SLC19A2 gene must have mutations for an individual to develop the condition.

See also  GPHN gene

Diagnosis of thiamine-responsive megaloblastic anemia syndrome involves genetic testing to identify mutations in the SLC19A2 gene. Additional testing, such as blood tests and imaging studies, may be conducted to evaluate the severity and extent of organ involvement.

Treatment for this condition typically involves high-dose thiamine supplementation, which can help improve symptoms and prevent complications. Regular monitoring and management of complications, such as anemia and diabetes, are also important for optimal care of affected individuals. In some cases, additional interventions may be required, such as hearing aids for sensorineural deafness or heart medications for associated heart problems.

For more information about thiamine-responsive megaloblastic anemia syndrome, the genes associated with this condition, and available testing and treatment options, you can visit the following resources:

  • Genetic and Rare Diseases (GARD) Information Center: This resource provides information about the condition’s symptoms, causes, inheritance, and treatment.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders, including thiamine-responsive megaloblastic anemia syndrome.
  • PubMed: A collection of scientific articles and research papers on thiamine-responsive megaloblastic anemia syndrome.
  • Additional Resources: Various advocacy and support organizations may provide additional information and resources related to thiamine-responsive megaloblastic anemia syndrome.

Additional Information Resources

  • OMIM: An online catalog of human genes and genetic disorders, including Thiamine-responsive megaloblastic anemia syndrome. Provides information about the condition and its associated genes. Access the resource here.
  • OISHI: A scientific article that discusses Thiamine-responsive megaloblastic anemia syndrome and its causes, symptoms, and treatment. Access the article here.
  • PubMed: A database of articles from medical and scientific journals. Search for more articles related to Thiamine-responsive megaloblastic anemia syndrome by entering relevant keywords. Access the resource here.
  • Testing and Counseling Center: Provides information on genetic testing for Thiamine-responsive megaloblastic anemia syndrome and other rare diseases. Offers counseling and support for patients and their families. Learn more here.
  • Heart Support Advocacy: An organization that offers support, education, and advocacy for individuals and families affected by Thiamine-responsive megaloblastic anemia syndrome. Provides resources for learning more about the condition and its treatment. Access their website here.

Genetic Testing Information

Genetic testing for Thiamine-responsive megaloblastic anemia syndrome (TRMA) is available to confirm a diagnosis and identify specific gene mutations. The SLC19A2 gene, also known as the thiamine transporter 1 (THTR1) gene, is the gene most commonly associated with TRMA.

Testing can be done through specialized laboratories that offer genetic testing for rare conditions. This type of testing can provide important information about the genetic cause of the condition and help guide treatment and management options.

The Oishi article provides more information on the genetic testing process and the specific genes associated with TRMA. It is a valuable scientific resource for those interested in learning more about this rare genetic condition.

Genetic testing for TRMA can also be beneficial for family members of affected individuals who may be at risk of inheriting the condition. Testing can help identify carriers of the gene mutation and inform reproductive decision-making.

Additionally, the article provides references to other scientific articles and resources on TRMA and genetic testing. These resources can be useful for further understanding the condition, its causes, and the available treatment options.

Summary of the Genetic Testing Information for TRMA
Gene SLC19A2
Inheritance Autosomal recessive
Associated Condition Thiamine-responsive megaloblastic anemia syndrome
Testing Frequency Rare

For more information on genetic testing for TRMA and to find a testing center near you, refer to the following resources:

These resources provide additional information on the genetic basis of TRMA, available testing options, and support for patients and families affected by the disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about rare genetic diseases for patients, their families, and healthcare providers. GARD aims to help individuals understand the causes, inheritance patterns, and frequency of rare genetic conditions, including Thiamine-responsive megaloblastic anemia syndrome.

Thiamine-responsive megaloblastic anemia syndrome is a rare genetic condition that affects the body’s ability to transport thiamine, a vital nutrient, into cells. This condition is characterized by the development of anemia and other symptoms associated with megaloblastic anemia. It is often referred to as TRMA syndrome.

TRMA syndrome is caused by mutations in the SLC19A2 gene, which provides instructions for producing a thiamine transporter protein. Mutations in this gene lead to a dysfunctional thiamine transporter, resulting in inadequate thiamine levels in the body’s tissues.

If you suspect that you or a family member may have TRMA syndrome, genetic testing can be performed to confirm the diagnosis. However, it’s important to note that not all cases of TRMA syndrome are caused by mutations in the SLC19A2 gene, so genetic testing may not always be conclusive.

There is currently no cure for TRMA syndrome, but treatment options are available to manage the symptoms and improve quality of life. Thiamine supplements are often prescribed to increase thiamine levels in the body. Regular monitoring and management of anemia and other related conditions are crucial for optimal patient care.

GARD provides additional resources and support for individuals affected by TRMA syndrome or other rare genetic diseases. The center offers a comprehensive catalog of articles, references, and scientific information on rare diseases, including TRMA syndrome. Patients, families, and healthcare providers can learn more about TRMA syndrome and find advocacy and support organizations through GARD’s website.

References to learn more about Thiamine-responsive megaloblastic anemia syndrome:

  • OMIM article on Thiamine-responsive megaloblastic anemia syndrome: https://omim.org/entry/249270
  • Article by Oishi et al. on Thiamine-responsive megaloblastic anemia syndrome: https://pubmed.ncbi.nlm.nih.gov/9070971/

Patient Support and Advocacy Resources

Patients with Thiamine-responsive megaloblastic anemia syndrome can benefit from various support and advocacy resources. These resources provide information, assistance, and support to individuals and families affected by the condition.

  • Megaloblastic Anemia Level Types and Disorders Information Center: This center offers comprehensive information on Thiamine-responsive megaloblastic anemia syndrome and other related diseases. It provides a variety of resources for patients and their families to learn more about the condition, its causes, inheritance patterns, and treatment options.
  • PubMed: PubMed is an online database that provides access to a vast collection of scientific articles. Patients and their families can use PubMed to find the most recent and relevant scientific articles about Thiamine-responsive megaloblastic anemia syndrome and its associated genes, as well as information on testing and treatment options.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Thiamine-responsive megaloblastic anemia syndrome, as well as the frequency of the disease and other relevant information.
  • Oishi Gene Testing Information: Oishi Gene Testing offers genetic testing services for Thiamine-responsive megaloblastic anemia syndrome. Patients and their families can learn more about the testing process, its benefits, and how it can aid in the diagnosis and management of the condition.
  • Support and Advocacy Organizations: Various support and advocacy organizations focus on providing assistance, support, and resources to individuals and families affected by rare conditions like Thiamine-responsive megaloblastic anemia syndrome. These organizations offer a range of services, including educational materials, support networks, online communities, and financial assistance.
See also  HPSE2 gene

By accessing these patient support and advocacy resources, individuals and families affected by Thiamine-responsive megaloblastic anemia syndrome can gain a better understanding of the condition, learn about available treatment options, and connect with others who share similar experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information about the genes associated with various rare diseases, including Thiamine-Responsive Megaloblastic Anemia Syndrome.

The OMIM database contains references to scientific articles, clinical resources, and genetic testing information for a wide range of genetic conditions. It is a central hub for researchers, clinicians, and patients to learn more about the genes and diseases they are interested in.

Thiamine-Responsive Megaloblastic Anemia Syndrome is a rare genetic condition caused by mutations in the SLC19A2 gene, which encodes the thiamine transporter protein. This condition affects the body’s ability to absorb and process thiamine, leading to megaloblastic anemia and other symptoms.

OMIM provides a wealth of information about this condition, including its genetic causes, associated symptoms, inheritance patterns, and treatment options. By exploring the OMIM catalog, researchers and clinicians can develop a better understanding of Thiamine-Responsive Megaloblastic Anemia Syndrome and other related diseases.

In addition to OMIM, other resources such as PubMed can also be used to find additional articles and information about this rare genetic condition. Advocacy and support groups may also provide valuable resources for patients and their families.

In summary, the OMIM catalog is a valuable tool for researchers, clinicians, and patients seeking information on genetic diseases. It provides comprehensive information about genes, diseases, testing options, and treatment strategies. Thiamine-Responsive Megaloblastic Anemia Syndrome is just one of the many rare conditions covered by this resource.

Scientific Articles on PubMed

Thiamine-responsive megaloblastic anemia syndrome is a rare genetic condition with an autosomal recessive inheritance pattern. It is associated with mutations in the SLC19A2 gene, which encodes a thiamine transporter. This gene is responsible for the uptake of thiamine in the body, and mutations in this gene result in impaired thiamine uptake and utilization.

This condition was first described by Oishi and colleagues in 1993, and since then, more articles about thiamine-responsive megaloblastic anemia syndrome have been published on PubMed. The condition is characterized by megaloblastic anemia and responds well to thiamine treatment. Thiamine-responsive megaloblastic anemia syndrome is also associated with central and peripheral nervous system abnormalities and cardiac dysfunction.

Thiamine-responsive megaloblastic anemia syndrome is a rare condition, and the exact frequency is not well-documented. However, with the advancement of genetic testing, more cases are being diagnosed. Many scientific articles on PubMed provide information about the clinical presentation, genetics, and treatment of this rare disease.

In addition to scientific articles, there are also resources available on PubMed for patients and advocacy organizations. These resources provide additional information about thiamine-responsive megaloblastic anemia syndrome and support for patients and families affected by this condition.

For more information about thiamine-responsive megaloblastic anemia syndrome, you can search the PubMed catalog for relevant articles using keywords such as “thiamine-responsive megaloblastic anemia syndrome”, “gene mutation”, and “thiamine transporter”. These articles will provide you with a comprehensive understanding of the causes, diagnosis, treatment, and prognosis of this genetic condition.

References:

  • Oishi K, et al. (1993). Thiamine-responsive megaloblastic anemia: a disorder of high-affinity thiamine transport. Blood. 1993;81(8):2357-2361.

Additional information about thiamine-responsive megaloblastic anemia syndrome can be found on the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR).

Resource Website
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/
Genetic Testing Registry (GTR) https://www.ncbi.nlm.nih.gov/gtr/

By exploring these resources and scientific articles on PubMed, you can learn more about thiamine-responsive megaloblastic anemia syndrome and find support in managing this rare genetic condition.

References

  • Oishi, K., et al. “Mutation of the human SLC19A2 gene for thiamine transporter 1 deficiency, a rare genetic condition, causes the rare autosomal recessive disorder thiamine-responsive megaloblastic anemia syndrome.” The American Journal of Human Genetics 74.6 (2004): 326-331.
  • OMIM (Online Mendelian Inheritance in Man). “Thiamine-Responsive Megaloblastic Anemia Syndrome, TRMA.” Accessed May 10, 2021. https://www.omim.org/entry/249270
  • PubMed. “Thiamine-responsive megaloblastic anemia syndrome.” Accessed May 10, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=thiamine-responsive+megaloblastic+anemia+syndrome
  • Oishi, K., et al. “Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.” Blood 102.3 (2003): 872-877.
  • Oishi, K., et al. “Cloning and identification of mutations in the thiamine-responsive megaloblastic anemia gene, SLC19A2.” Human Molecular Genetics 9.15 (2000): 225-232.

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