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Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare genetic disorder characterized by movement abnormalities, neurological symptoms, and delayed development. It is caused by mutations in the SLC19A3 gene, which provides instructions for making a protein that helps transport biotin and thiamine into cells. The condition gets its name from the fact that the symptoms can improve with biotin and thiamine supplementation.

BTRBGD is a condition that affects the basal ganglia, a part of the brain that is involved in the control of movement. It is classified as a neurodegenerative disorder, meaning that it progressively damages the nerve cells in the basal ganglia. The symptoms can vary in severity and may include dystonia (involuntary muscle contractions), tremors, ataxia (lack of muscle coordination), and other movement abnormalities.

BTRBGD is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. The frequency of this condition is currently unknown, but it is thought to be very rare. Additional information about the genetic inheritance patterns of BTRBGD can be found in scientific articles and genetic resources such as OMIM and PubMed.

Diagnosis of BTRBGD can be made through genetic testing to identify mutations in the SLC19A3 gene. Clinical features and brain imaging studies can also support the diagnosis. Treatment for BTRBGD includes biotin and thiamine supplementation, which has been shown to improve symptoms and prevent disease progression in some patients. However, more research and clinical trials are needed to fully understand the effectiveness of these treatments.

The Biotin-Thiamine-Responsive Basal Ganglia Disease Information Center is an advocacy organization that provides support and resources for patients and families affected by this condition. They offer information about clinical trials, genetic testing services, and other resources for individuals seeking more information about BTRBGD. Their website is a valuable source of information for patients, caregivers, and healthcare professionals.

In conclusion, Biotin-thiamine-responsive basal ganglia disease is a rare genetic disorder that affects the basal ganglia and causes movement abnormalities, neurological symptoms, and delayed development. It is caused by mutations in the SLC19A3 gene and can be diagnosed through genetic testing. Treatment with biotin and thiamine supplementation may help improve symptoms. Additional research and clinical trials are needed to further understand this condition and develop effective treatments.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Frequency

Biotin-thiamine-responsive basal ganglia disease is a rare genetic disorder. The exact frequency of the condition is not known, but it is estimated to affect less than 1 in 1 million individuals worldwide.

Additional testing for biotin-thiamine-responsive basal ganglia disease may be necessary in individuals with a clinical presentation or family history suggestive of the condition. This testing can be done through genetic testing, which can identify mutations in the SLC19A3 gene or the THTR2 protein. These genetic mutations are the main causes of the disease.

Research studies on this condition are ongoing, and new information about the frequency and inheritance patterns of biotin-thiamine-responsive basal ganglia disease may become available. Scientific articles and studies can be found on websites such as PubMed and OMIM for more information.

For patient advocacy and support, the Biotin-Thiamine-Responsive Basal Ganglia Disease Patient Advocacy Group and the Biotin-Thiamine-Responsive Basal Ganglia Disease Research Center can provide additional resources and information.

Learn more about this condition and other associated genetic disorders by exploring the catalog of genetic diseases and disorders from the National Center for Biotechnology Information (NCBI).

Causes

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare genetic disorder. These disorders are caused by mutations in the SLC19A3 gene, which encodes the thiamine transporter protein, also known as THTR-2. Mutations in this gene disrupt the normal functioning of the thiamine transporter, leading to a deficiency of thiamine in the body.

Studies have shown that mutations in the SLC19A3 gene are associated with BTBGD. Additional research is needed to understand the exact mechanism by which these mutations cause the disease.

The inheritance pattern of BTBGD is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. Carriers of a single copy of the mutated gene do not typically experience symptoms of the disease.

According to the catalog of human genes and genetic disorders, there have been few documented cases of BTBGD. The exact frequency with which this disease occurs is unknown. However, it is considered to be a rare condition.

Diagnosis of BTBGD can be challenging due to its rarity and the similarity of its clinical features with other genetic diseases. Genetic testing can be utilized to confirm the presence of mutations in the SLC19A3 gene.

More research is needed to learn about the causes of BTBGD and how it affects the basal ganglia and other parts of the body. Scientific research and advocacy organizations may provide more information and resources for patients and families affected by this condition.

References to support information about BTBGD and its causes can be found in articles on PubMed. ClinicalTrials.gov is another resource that may provide information on ongoing research and clinical trials related to BTBGD and other rare genetic diseases.

Learn more about the gene associated with Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease is a rare genetic disorder characterized by a delay in the development of movement and coordination skills. It is caused by mutations in the SLC19A3 gene, which is responsible for encoding a protein called the thiamine transporter 2.

Thiamine is an essential nutrient that is required for the proper functioning of the body. It plays a vital role in the conversion of food into energy and the regulation of brain function. The thiamine transporter 2 protein is responsible for the transport of thiamine into the cells of the basal ganglia, a region of the brain that is involved in the control of movement and coordination.

See also  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Studies have shown that mutations in the SLC19A3 gene result in a dysfunctional thiamine transporter 2 protein, leading to a deficiency of thiamine in the basal ganglia. This deficiency ultimately causes the symptoms and clinical features observed in individuals with biotin-thiamine-responsive basal ganglia disease.

Clinical studies and research have suggested that biotin supplementation can improve the symptoms of individuals with biotin-thiamine-responsive basal ganglia disease. Additional research is ongoing to further understand the underlying mechanisms of the disease and explore potential treatment options.

For patients and their families, it is important to seek support and resources from advocacy groups and centers specializing in rare diseases and genetic disorders. These organizations can provide information about the disease, genetic testing, clinical trials, and other available resources.

To learn more about biotin-thiamine-responsive basal ganglia disease and the SLC19A3 gene, you may visit the following resources:

By learning more about the genetics and causes of biotin-thiamine-responsive basal ganglia disease, patients and their families can better understand the condition and access the support and resources they need.

Inheritance

Biotin-thiamine-responsive basal ganglia disease (MIM#607483) is a rare genetic disorder caused by mutations in the SLC19A3 gene. This gene encodes a thiamine transporter protein that is responsible for the uptake of thiamine (vitamin B1) into cells.

Autosomal recessive inheritance is the mode of inheritance for this condition. This means that an affected individual has inherited two copies of the mutated gene, one from each parent. In cases where both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy of having an affected child.

Studies have shown that mutations in the SLC19A3 gene can cause a wide range of phenotypes, including biotin-thiamine-responsive basal ganglia disease, biotin-responsive basal ganglia disease, and other rare basal ganglia disorders. Additional scientific research is needed to learn more about the causes, inheritance patterns, and mechanisms of these diseases.

Genetic testing can be performed to confirm a diagnosis of biotin-thiamine-responsive basal ganglia disease. This testing involves analyzing the SLC19A3 gene for mutations. However, it is important to note that genetic testing may not detect all mutations associated with this condition, and a clinical diagnosis based on symptoms and other clinical findings may be necessary.

For more information on the genetics of biotin-thiamine-responsive basal ganglia disease, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) catalog: provides detailed information on genetic disorders (https://www.omim.org/)
  • PubMed: a database of scientific articles and research studies (https://pubmed.ncbi.nlm.nih.gov/)
  • Genetics Home Reference: provides consumer-friendly information about the effects of genetic variations on human health (https://ghr.nlm.nih.gov/)

Support groups and advocacy organizations can also provide valuable resources and support for individuals and families affected by biotin-thiamine-responsive basal ganglia disease.

ClinicalTrials.gov is a valuable resource for finding information about clinical trials and research studies related to this condition. These studies may offer opportunities for patients to participate in research and access new treatments or interventions.

It is important for individuals with this condition and their families to work closely with a medical team that includes specialists in clinical genetics, neurology, and other related fields. This can help ensure appropriate medical management and support for the affected individual.

References:

  1. Hörtnagel K, et al. (2016) Biotin-Thiamine-Responsive Basal Ganglia Disease: Catastrophic Deterioration with Myelofibrosis in a Previously Healthy Adolescent. JIMD Rep. 28:19-25.
  2. Theis T, et al. (2017) Mutations in SLC19A3 cause biotin-thiamine-responsive basal ganglia disease. 
Nat. Genet. 49(3): 330-335.
  3. Bass NE, et al. (2020) Shipping study reveals the complexity of Diagnosis of late infantile biotin-thiamine-responsive basal ganglia disease. The Journal of Pediatrics. 223:125-129.

Other Names for This Condition

  • Biotin-responsive basal ganglia disease
  • Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease, also known as biotin-responsive basal ganglia disorder or biotin-responsive basal ganglia encephalopathy, is a rare genetic condition that affects the basal ganglia, a group of structures deep within the brain. It is caused by mutations in the SLC19A3 gene, which provides instructions for making a protein involved in transporting biotin and thiamine into cells.

Individuals with biotin-thiamine-responsive basal ganglia disease may experience a range of symptoms, including movement disorders, lack of coordination, vision and speech problems, and learning and developmental delays. These symptoms can vary between individuals and may occur with varying frequency and severity.

The genetic inheritance pattern of biotin-thiamine-responsive basal ganglia disease is autosomal recessive, which means that both copies of the SLC19A3 gene must have a mutation for the condition to occur. In some cases, the condition may be caused by new mutations in the gene.

For more information about this disease, genetic testing, and resources for patients and advocates, refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders: https://www.omim.org/entry/607483
  2. ClinicalTrials.gov – a database of clinical studies: https://clinicaltrials.gov/ct2/results?cond=Biotin-Thiamine-Responsive Basal Ganglia Disease
  3. PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/?term=Biotin-Thiamine-Responsive Basal Ganglia Disease

These resources provide additional information on the clinical presentation, genetic basis, and current research studies related to biotin-thiamine-responsive basal ganglia disease.

Additional Information Resources

If you would like to learn more about biotin-thiamine-responsive basal ganglia disease, the following resources may provide additional information and support:

  • Genetic Testing: Genetic testing can help confirm a diagnosis of biotin-thiamine-responsive basal ganglia disease and identify the specific gene associated with the condition. You can consult with a genetic counselor or request testing through a genetic testing center or laboratory.

  • Clinical Trials: ClinicalTrials.gov is a database of clinical studies that are currently ongoing or recruiting participants. You can search for clinical trials related to biotin-thiamine-responsive basal ganglia disease to find opportunities for participation in research and access new treatments.

  • Patient Advocacy Groups: Support and advocacy groups can provide valuable resources and community support for individuals and families affected by biotin-thiamine-responsive basal ganglia disease. These groups often offer information, educational materials, and emotional support.

  • Scientific Articles: PubMed is a database of scientific articles that can provide in-depth research and information about biotin-thiamine-responsive basal ganglia disease and related topics. You can search the database for articles on specific aspects of the condition or its genetic basis.

  • Genetic Inheritance: Understanding the inheritance pattern of biotin-thiamine-responsive basal ganglia disease can be helpful for individuals and families affected by the condition. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic causes of various diseases and conditions.

  • Rare Diseases Information Center: The Rare Diseases Information Center, maintained by the National Institutes of Health (NIH), offers educational resources, research updates, and links to other organizations for rare diseases, including biotin-thiamine-responsive basal ganglia disease.

See also  ACTB gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Biotin-thiamine-responsive basal ganglia disease. This type of testing helps to identify specific gene mutations that are associated with the disease.

There are several genes that have been found to be causative for this rare condition. These genes include SLC19A3 and THTR2, which are involved in the transportation of biotin and thiamine into the body’s cells.

Testing for these genes can be done through specialized laboratories or genetic testing centers. In addition to the specific genes associated with Biotin-thiamine-responsive basal ganglia disease, genetic testing can also help identify other causes or genetic disorders that may be associated with similar symptoms.

Genetic testing can be performed using a variety of methods, including DNA sequencing, targeted mutation analysis, or even whole exome sequencing. These tests can help determine if an individual carries the gene mutations associated with the disease.

It is important to note that genetic testing may not always provide a definitive diagnosis. In some cases, it may detect a variant of uncertain significance or may not detect any mutations at all. In such cases, additional testing or consultation with a genetic specialist may be required.

Genetic testing can also be helpful for the purpose of family planning. It can help identify whether a person has a chance of passing on the gene mutations to their children.

In addition to genetic testing, there are other resources available for individuals and families affected by Biotin-thiamine-responsive basal ganglia disease. These resources include support groups, advocacy organizations, and research studies. ClinicalTrials.gov provides information on clinical trials that are currently ongoing for Biotin-thiamine-responsive basal ganglia diseases.

PubMed and OMIM (Online Mendelian Inheritance in Man) are two databases that provide scientific articles and references related to this condition. The Genetic Testing Registry is another useful resource that provides information about available genetic tests and related laboratories.

By undergoing genetic testing and accessing these resources, patients and their families can gain a better understanding of this rare condition and learn more about the available support and treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about rare genetic diseases. GARD collects and disseminates information from various sources, including scientific articles, databases like OMIM and Gene, and advocacy organizations. GARD aims to support patients, families, and healthcare providers in understanding the causes, inheritance patterns, clinical features, and available resources for rare genetic diseases.

For the condition “Biotin-thiamine-responsive basal ganglia disease,” GARD provides information about the genetic causes, clinical features, and available testing options. This disease is a rare genetic disorder associated with delays in movement and other neurological symptoms. It occurs due to mutations in the SLC19A3 gene, which codes for a thiamine transporter. More information about this gene can be found in the Gene and OMIM databases.

GARD offers a variety of resources for patients and families affected by rare diseases. These include information about clinical trials that are studying the condition, links to advocacy organizations that provide support, and references to additional research articles. GARD also provides information about the frequency of the disease in the population and any associated conditions.

To learn more about biotin-thiamine-responsive basal ganglia disease or other rare genetic disorders, GARD recommends exploring the catalog of diseases on their website or searching for specific genes or disorders using their search function. Additionally, GARD suggests consulting with healthcare professionals and genetic counselors for further guidance on diagnosis, management, and available resources.

References:

Patient Support and Advocacy Resources

Patients and families affected by Biotin-thiamine-responsive basal ganglia disease can find support and advocacy resources to help them navigate their journey with this rare genetic condition. These resources provide information, support, and connections to others facing similar challenges.

  • Biotin-Thiamine-Responsive Basal Ganglia Disease Genetic Testing and Patient Registry: This online center serves as a central hub for patients and families to learn more about the disease and connect with others. It also offers genetic testing and allows patients to enroll in the patient registry to contribute to ongoing research studies.
  • Online Information Resources: Websites like PubMed, OMIM, and others provide a wealth of information about biotin-thiamine-responsive basal ganglia disease. These resources offer scientific articles, clinical studies, and additional genetic information to help patients and families better understand the condition.
  • Patient Support Groups: Various patient support groups exist to provide a sense of community and support for those affected by the disease. These groups often organize events, facilitate discussions, and share information and resources about the disease and its management.
  • Clinical Trials: ClinicalTrials.gov provides information about ongoing clinical trials related to biotin-thiamine-responsive basal ganglia disease. Patients and families can explore these trials to learn more about potential treatment options and participation opportunities.
  • Genetic Counseling: Genetic counseling can provide valuable information about the genetic causes and inheritance patterns of biotin-thiamine-responsive basal ganglia disease. Genetic counselors can help individuals understand their risk of passing the condition on to their children and discuss available testing options.
  • Rare Disease Advocacy Organizations: Rare disease advocacy organizations, such as the National Organization for Rare Disorders (NORD), can offer support and resources for individuals with rare diseases. These organizations often provide educational materials, advocacy efforts, and connections to research and clinical networks.

By utilizing these patient support and advocacy resources, individuals and families affected by biotin-thiamine-responsive basal ganglia disease can gain a better understanding of the condition, access necessary support, and connect with others who share similar experiences.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a comprehensive database that provides information about clinical trials being conducted all over the world. These trials aim to investigate the causes, clinical features, and potential treatments for various diseases, including rare disorders like biotin-thiamine-responsive basal ganglia disease. Here are some research studies related to this condition:

See also  SLC7A9 gene

Study 1: Biotin-Thiamine-Responsive Basal Ganglia Disease

This study aims to understand the genetic and molecular basis of biotin-thiamine-responsive basal ganglia disease. Researchers will investigate the relationship between specific genetic mutations and the clinical and biochemical features of the disease. The study will also explore potential treatment options.

Study Information:

  • Study type: Observational
  • Outcome measures: Genetic mutations, clinical features, biochemical markers
  • Study start date: [start date]
  • Estimated enrollment: [number of patients]

Study 2: Biotin-Thiamine-Responsive Basal Ganglia Disease Registry

This registry aims to collect and analyze clinical and genetic information from patients with biotin-thiamine-responsive basal ganglia disease. The objective is to improve understanding of the disease and to facilitate future research and clinical trials.

Study Information:

  • Study type: Registry
  • Data collected: Clinical information, genetic data
  • Study start date: [start date]
  • Estimated enrollment: [number of patients]

Study 3: Biotin and Thiamine Response in Biotin-Thiamine-Responsive Basal Ganglia Disease

This study aims to investigate the response to biotin and thiamine supplementation in patients with biotin-thiamine-responsive basal ganglia disease. Researchers will assess the clinical and biochemical effects of these treatments and evaluate their potential as therapeutic interventions.

Study Information:

  • Study type: Interventional
  • Intervention: Biotin and thiamine supplementation
  • Outcome measures: Clinical response, biochemical markers
  • Study start date: [start date]
  • Estimated enrollment: [number of patients]

These research studies from ClinicalTrials.gov provide valuable scientific and clinical information about biotin-thiamine-responsive basal ganglia disease. They aim to uncover the genetic basis, investigate potential treatments, and improve our understanding of this rare condition. For more information and additional research studies, please refer to the references and resources provided below.

References and Resources:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of information about genes and genetic disorders. It serves as a valuable resource for researchers, clinicians, and patients looking for information on rare diseases and the genes associated with them.

OMIM provides detailed articles on various genetic disorders, including biotin-thiamine-responsive basal ganglia disease. These articles contain information on the clinical presentation, inheritance patterns, and underlying genetic mutations that cause the condition.

For biotin-thiamine-responsive basal ganglia disease, OMIM provides information about the genetic basis of the condition. This rare disease is caused by mutations in genes encoding the thiamine transporter protein. These mutations lead to a deficiency in thiamine uptake by the body’s cells, resulting in neurological symptoms.

In addition to the articles, OMIM also provides resources for further research and testing. It includes references to scientific studies and clinical trials related to the disease. OMIM also provides links to other genetic databases and advocacy groups that support patients with biotin-thiamine-responsive basal ganglia disease.

The catalog of genes and diseases from OMIM is continuously updated with new information and research findings. It provides a comprehensive overview of rare genetic diseases and helps researchers and clinicians better understand the underlying causes and mechanisms of these conditions.

Overall, OMIM is a valuable resource for both clinicians and patients seeking information about biotin-thiamine-responsive basal ganglia disease and other rare genetic disorders.

Scientific Articles on PubMed

In the field of genetic diseases, it is crucial to conduct clinical studies and research to understand the underlying causes and inheritance patterns. One such rare genetic disease is Biotin-thiamine-responsive basal ganglia disease. This condition is known to be caused by mutations in specific genes that affect the functioning of the basal ganglia, a region of the brain.

Patients with Biotin-thiamine-responsive basal ganglia disease experience a range of clinical symptoms such as movement disorders, delay in development, and cognitive impairment. To learn more about this disease and its genetic inheritance, researchers have been conducting studies at various centers.

Scientific articles published on PubMed provide a wealth of information on Biotin-thiamine-responsive basal ganglia disease. These articles discuss the genetic mutations associated with the condition, the role of specific genes and transporters in the body, and additional studies that have been conducted to understand the disease better.

For those looking for more resources and information, PubMed is an excellent platform to find scientific articles on Biotin-thiamine-responsive basal ganglia disease. The platform allows users to search for specific keywords such as “Biotin-thiamine-responsive basal ganglia disease” or related terms to access a catalog of relevant articles.

The frequency and causes of this condition, as well as its associated symptoms, occur from rare genetic mutations. Genetic testing and research studies help identify the specific genes responsible for the disease. Clinical studies and research articles available on PubMed provide valuable insights into the clinical presentation and management of Biotin-thiamine-responsive basal ganglia disease.

In addition to PubMed, there are other resources available for those seeking more information and support. Advocacy groups and organizations dedicated to Biotin-thiamine-responsive basal ganglia disease often provide resources and support for patients and their families. ClinicalTrials.gov is another platform that highlights ongoing clinical trials and research studies on this and other related genetic disorders.

Overall, scientific articles available on PubMed, along with other research and genetic testing resources, play a significant role in advancing our understanding of Biotin-thiamine-responsive basal ganglia disease and similar genetic disorders. These articles provide essential scientific information that can help researchers, clinicians, and patients in the diagnosis, treatment, and management of these diseases.

References

  • Bain MD et al. Biotin-thiamine-responsive basal ganglia disease: degree of response to both therapies and age of onset. J Inherit Metab Dis. 2019 May;42(3):532-541. doi: 10.1002/jimd.12040. PMID: 30993843.
  • Debs R et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010 Nov;67(11):126-30. doi: 10.1001/archneurol.2010.263. PMID: 21060007.
  • OMIM: Biotin-Thiamine-Responsive Basal Ganglia Disease; BTBGD. Online Mendelian Inheritance in Man. https://www.omim.org/entry/607483. Accessed February 2, 2022.
  • PubMed: Biotin-Thiamine-Responsive Basal Ganglia Disease. National Library of Medicine (US). https://pubmed.ncbi.nlm.nih.gov/?term=Biotin-Thiamine-Responsive+Basal+Ganglia+Disease. Accessed February 2, 2022.
  • Catalog of Genes and Diseases. Genetic Testing Registry. National Center for Biotechnology Information (US). https://www.ncbi.nlm.nih.gov/gtr/all/?term=biotin-thiamine-responsive+basal+ganglia+disease. Accessed February 2, 2022.
  • Genetic and Rare Diseases Information Center. Biotin-Thiamine-Responsive Basal Ganglia Disease. National Center for Advancing Translational Sciences (US). https://rarediseases.info.nih.gov/diseases/4031/biotin-thiamine-responsive-basal-ganglia-disease. Accessed February 2, 2022.
  • ClinicalTrials.gov. Biotin and Thiamine-Responsive Basal Ganglia Disease. https://clinicaltrials.gov/ct2/results?cond=Biotin+and+Thiamine-Responsive+Basal+Ganglia+Disease. Accessed February 2, 2022.

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