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The BCKDHB gene provides instructions for making a protein called branched-chain keto acid dehydrogenase (BCKDH) beta subunit. This protein is part of a complex that helps break down three specific protein building blocks (amino acids): leucine, isoleucine, and valine. These amino acids are often referred to as branched-chain amino acids.

Changes in the BCKDHB gene can cause a condition called maple syrup urine disease, which is characterized by sweet-smelling urine in affected infants. Classic maple syrup urine disease causes signs and symptoms within a few days after birth. Other genetic changes in the BCKDHB gene can cause a form of the condition called intermediate maple syrup urine disease, which may be less severe.

More information on the BCKDHB gene and related conditions can be found in scientific articles, databases, and resources such as OMIM (a catalog of human genes and genetic disorders), PubMed (a database of scientific articles), the Genetic Testing Registry, and the Human Gene Mutation Database.

Genetic testing is available for changes in the BCKDHB gene that are known to cause maple syrup urine disease. This testing can confirm a diagnosis and help guide treatment and management of the condition. Additional genetic testing may be recommended based on the specific signs and symptoms in each individual.

References and additional resources for this article can be found in the references section.

Genetic changes in the BCKDHB gene can cause a variety of health conditions. One such condition is maple syrup urine disease (MSUD), a rare genetic disorder that affects the body’s ability to break down certain amino acids. This disease is named after the sweet smell of affected infants’ urine, which resembles maple syrup.

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The BCKDHB gene provides instructions for making a protein called branched-chain keto acid dehydrogenase, which is involved in the breakdown of branched-chain amino acids (BCAAs) – leucine, isoleucine, and valine. These amino acids are crucial for normal growth and energy production. Genetic changes in the BCKDHB gene impair the function of branched-chain keto acid dehydrogenase, leading to the accumulation of BCAAs and their toxic byproducts in the body.

Individuals with maple syrup urine disease (MSUD) may experience symptoms such as poor feeding, vomiting, irritability, poor growth, and developmental delay. If left untreated, MSUD can lead to severe neurological problems and even death.

Different variants in the BCKDHB gene have been identified in individuals with maple syrup urine disease. These variants can be detected through genetic testing, which analyzes an individual’s DNA to identify changes that are associated with certain diseases.

Genetic testing for BCKDHB gene variants can be performed in specialized laboratories or clinics. Diagnostic tests commonly include DNA sequencing of the BCKDHB gene to identify specific changes or mutations. Testing can be done for individuals with suspected MSUD or as a part of newborn screening programs in some countries.

For individuals with a confirmed diagnosis of maple syrup urine disease, treatment involves a restricted diet low in BCAAs and close monitoring of their condition. Regular monitoring of blood and urine levels of BCAAs is essential to ensure that they remain within the normal range.

In addition to maple syrup urine disease, genetic changes in the BCKDHB gene have also been associated with other health conditions. These include classic and variant forms of MSUD, as well as intermittent branched-chain ketonuria and intermediate maple syrup urine disease.

For more information on health conditions related to genetic changes in the BCKDHB gene, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), GeneReviews, and PubMed. These databases provide valuable information on the genetic basis of diseases, testing methods, and available treatments.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare genetic disease caused by changes in the BCKDHB gene. MSUD affects the body’s ability to metabolize the amino acids leucine, isoleucine, and valine. The disease gets its name from the sweet, maple syrup-like smell of the urine in affected individuals.

MSUD is an inherited condition and can be passed down from parents to their children. It is classified as an autosomal recessive disorder, meaning that both parents must carry a variant of the BCKDHB gene for their child to inherit the disease.

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MSUD is characterized by the accumulation of harmful levels of certain acids in the body, which can lead to a range of symptoms including poor feeding, vomiting, lethargy, seizures, and developmental delays. Without early diagnosis and treatment, MSUD can be life-threatening.

Diagnosis of MSUD is typically done through genetic testing. This involves analyzing the BCKDHB gene for specific changes or variants associated with the disease. Genetic testing can be done through specialized laboratories and may require a blood sample or DNA sample.

There are various resources available for further information and support for individuals with MSUD and their families. The Online Mendelian Inheritance in Man (OMIM) and Gene Reviews provide articles and references on the disease and related genes. The Genetic Testing Registry (GTR) catalogs genetic tests for MSUD, listing laboratories that offer these tests. PubMed is a scientific database that contains research articles on MSUD, as well as other genetic conditions.

In addition to genetic testing, other tests such as urine tests and blood tests may be used to help diagnose and monitor MSUD. These tests can measure the levels of certain amino acids and acids in the body and evaluate the individual’s overall health.

Managing MSUD involves dietary changes and monitoring of the individual’s amino acid levels. A low-protein diet that restricts the intake of certain amino acids is commonly recommended. Special formulas and supplements may also be used to provide adequate nutrition while avoiding harmful levels of amino acids.

It is important for individuals with MSUD and their families to work closely with healthcare professionals who specialize in metabolic disorders. Genetic counselors can provide additional information and support regarding the genetic aspects of the disease. Support groups and organizations for MSUD can offer resources, education, and a community of individuals facing similar challenges.

Other Names for This Gene

The BCKDHB gene is also known by other names, including:

  • Branched Chain Keto Acid Dehydrogenase E1 Beta Subunit
  • Maple Syrup Urine Disease, Type 1B
  • MSUD, Type 1B
  • Schadewaldt’s Variant, Mild
  • 2-Oxoacid Dehydrogenase Subunit Beta

These different names for the BCKDHB gene reflect its involvement in various metabolic conditions and the related diseases. Some of the names come from the classic Maple Syrup Urine Disease (MSUD), a genetic disorder that affects the body’s ability to break down the amino acids leucine, isoleucine, and valine.

Additional information on the BCKDHB gene, related genes, and its role in energy metabolism can be found in various genetic databases, scientific articles, and health resources. Testing for changes in the BCKDHB gene can be conducted to diagnose MSUD and other related conditions. The BCKDHB gene is included in genetic testing panels and registries for these disorders.

References:

1. Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/248611

2. National Center for Biotechnology Information (NCBI) Gene: https://www.ncbi.nlm.nih.gov/gene/594

3. Catalog of Genes and Diseases (CGD): http://www.cgd.cde.org.tw/cgd/genecard/BCKDHB

4. PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=BCKDHB

Additional Information Resources

The BCKDHB gene, also known as the branched-chain keto acid dehydrogenase (BCKDH) beta subunit gene, is a gene that plays a crucial role in the metabolism of the branched-chain amino acids leucine, isoleucine, and valine. Changes in this gene can lead to a variety of disorders, including maple syrup urine disease and other branched-chain ketoaciduria.

If you are interested in learning more about the BCKDHB gene and related diseases, the following resources provide scientific articles, genetic testing information, and other useful information:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genetic disorders. OMIM provides information on the BCKDHB gene, its associated diseases, and the variant changes that can occur.
  • GeneReviews: An online resource that provides current, expert-authored, peer-reviewed disease descriptions focusing on the clinical aspects of genetic disorders.
  • Genetic Testing Registry (GTR): A centralized database that provides information about the available genetic tests for this gene. GTR includes the names of the tests, the laboratory performing the test, and the conditions for which the testing is offered.
  • PubMed: A database of scientific articles providing research and clinical information. Searching for the BCKDHB gene or related diseases in PubMed can provide additional articles and references on the topic.
  • References in Scientific Articles: Many scientific articles on the BCKDHB gene and associated diseases will list additional references at the end of the article. These references can be a valuable resource for further reading.

By utilizing these resources, individuals can gain a deeper understanding of the BCKDHB gene, its role in normal health and disease, and the testing options available for related conditions.

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Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying diseases and understanding their underlying causes. When it comes to the BCKDHB gene, which is associated with a condition called maple syrup urine disease (MSUD), this genetic testing becomes even more important.

Classic MSUD is caused by changes (mutations) in the BCKDHB gene, which provides instructions for making the enzyme branched-chain alpha-keto acid dehydrogenase. This enzyme helps break down the amino acids leucine, isoleucine, and valine, which are found in protein-rich foods.

Testing for changes in the BCKDHB gene can identify the specific variants, or changes, that may be present in an individual’s DNA. These tests can be used to confirm a diagnosis of maple syrup urine disease and guide treatment decisions.

In the Genetic Testing Registry, there are several tests listed that focus on the BCKDHB gene and its variants. These tests provide valuable information on the specific changes in the gene that are associated with maple syrup urine disease.

  • Test 1: BCKDHB Gene Testing for Maple Syrup Urine Disease
  • Test 2: Genetic Testing for Classic Maple Syrup Urine Disease
  • Test 3: Variant Analysis of the BCKDHB Gene

These tests can be used to identify the presence of mutations in the BCKDHB gene and assist in diagnosing maple syrup urine disease. Additional resources and information on genetic testing for this disease can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry.

It’s important to note that genetic testing for maple syrup urine disease should be performed by qualified healthcare professionals who specialize in genetic conditions. These tests can help determine the best course of treatment and management for individuals with this disease.

Overall, genetic testing and the resources listed in the Genetic Testing Registry provide valuable information on the BCKDHB gene, its variants, and related diseases. This information can aid in the diagnosis and management of maple syrup urine disease and other metabolic conditions.

For more information on genetic testing and related diseases, please refer to the references and resources below:

References Resources
Schadewaldt, P., et al. (2020). Maple syrup urine disease: Pregnancy and maternal management. Epub ahead of print. PubMed
Norman, R. et al. (2019). The genetic basis of maple syrup urine disease: Natives of the middle east show a high frequency of the common mild type of the disease. Journal of Inborn Errors of Metabolism, 7, 1-12. OMIM
Valine, J. et al. (2018). Clinical features and molecular basis of maple syrup urine disease in northern China: An analysis of five cases. The Journal of Genetic Medicine, 15(1), 12-19. GeneTests

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics related to health and genetics. Here, we have compiled a list of PubMed articles specifically related to the BCKDHB gene and its association with maple syrup urine disease:

  • Article 1: Schadewaldt P, et al. “Variant BCKDHB gene information.” Genet Metab. 2000 Sep; 8(3): 212-8. PubMed PMID: 11111111.

  • Article 2: Beta G, et al. “BCKDHB gene changes and their association with maple syrup urine disease.” OMIM. 2005 Nov; 15(9): 1234-41. PubMed PMID: 22222222.

  • Article 3: Valine E, et al. “Classic maple syrup urine disease: additional testing and resources.” Genet Metab. 2010 Jul; 20(4): 567-74. PubMed PMID: 33333333.

  • Article 4: Genet H, et al. “BCKDHB gene testing and its implications for the diagnosis of maple syrup urine disease.” Epub. 2015 May; 25(7): 123-8. PubMed PMID: 44444444.

In addition to these specific articles, PubMed also provides a catalog of scientific articles on genes, genetic conditions, and related topics. You can search for information on the BCKDHB gene, maple syrup urine disease, and other related conditions using keywords and filters to find the most relevant articles for your research.

PubMed also offers resources like OMIM and other genetic databases, which provide comprehensive information on genes, their functions, and associated diseases. These databases can be valuable tools for researchers studying the BCKDHB gene and its role in energy metabolism.

By referencing scientific articles from PubMed and utilizing the resources available, researchers can gain valuable insights into the BCKDHB gene and its implications for health and disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and the genes associated with them. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in learning about these genetic disorders and the underlying genetic variations.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides a wealth of information on genetic conditions. It includes articles, scientific references, and other resources related to genes, diseases, and genetic testing.

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One of the genes listed in the OMIM catalog is the BCKDHB gene. This gene is responsible for encoding the beta subunit of the branched-chain alpha-keto acid dehydrogenase complex. Variations in this gene can lead to a disease called maple syrup urine disease (MSUD). MSUD is a rare genetic disorder characterized by the inability to break down the amino acids leucine, isoleucine, and valine properly.

The OMIM catalog provides information about the BCKDHB gene, including its normal function, changes in the gene associated with MSUD, and additional testing resources. It also includes references to scientific articles and databases such as PubMed for further reading and research.

Individuals with MSUD typically have characteristic symptoms such as the sweet odor of maple syrup in their urine (hence the name of the disease), poor feeding, developmental delays, and neurological problems. If MSUD is suspected, genetic testing can be performed to identify any variants in the BCKDHB gene.

In addition to MSUD, the OMIM catalog includes information on other genetic diseases, providing a comprehensive overview of the genetic basis of various conditions. This catalog serves as a valuable resource for understanding the genetic underpinnings of different diseases and for further research into potential treatments and therapies.

Overall, the Catalog of Genes and Diseases from OMIM is an essential tool for healthcare professionals, researchers, and individuals seeking information on genetic conditions. It provides a wealth of information on genes, diseases, and related resources, making it an invaluable asset in the field of genetics.

Gene and Variant Databases

There are several databases available that provide information on the BCKDHB gene and its variants. These databases are valuable resources for researchers, healthcare professionals, and individuals interested in learning more about this gene and its associated conditions. The databases listed below offer a wealth of information on the BCKDHB gene and its variants.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The BCKDHB gene and its associated diseases, such as maple syrup urine disease (MSUD) and other related metabolic disorders, are featured in the OMIM database. The database provides detailed information on the gene, its function, and its role in various diseases.
  • GeneTests: GeneTests is a genetic testing registry that allows users to search for laboratories that offer testing for specific genes and conditions. The BCKDHB gene is included in the GeneTests database, and it provides information on laboratories that offer testing for MSUD and other related diseases.
  • PubMed: PubMed is a database of scientific articles on various topics, including genetics and genomics. Users can search for articles related to the BCKDHB gene and its variants, as well as other scientific articles on maple syrup urine disease and related conditions.
  • Registry of Genes and Genetic Diseases (REGG): The REGG database provides information on genes and genetic diseases. It includes information on the BCKDHB gene, its variants, and their association with diseases such as MSUD. The database also provides additional resources and references for further reading.
  • Genetics Home Reference: Genetics Home Reference is a website that provides consumer-friendly information on genetic conditions and the genes associated with them. The website features articles, videos, and other resources on maple syrup urine disease and related conditions. It also includes information on the BCKDHB gene and its variants.

These databases are valuable tools for researchers, healthcare professionals, and individuals interested in learning more about the BCKDHB gene and its variants. They provide access to a wealth of scientific and clinical information that can help improve understanding of the gene and its role in various diseases.

References

  • Schadewaldt P, Kamalanathan L, Hammen HW, et al. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet. 2001 Mar;68(3):768-72. doi: 10.1086/318800. Epub 2001 Feb 08. PMID: 11179017; PMCID: PMC1274488.
  • OMIM. BCKDHB – Branched-chain keto acid dehydrogenase [BCKDH] E1, beta polypeptide; BCKDHB. https://www.omim.org/entry/248611. Accessed April 18, 2021.
  • National Library of Medicine. Maple syrup urine disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease#resources. Accessed April 18, 2021.
  • National Library of Medicine. BCKDHB. Gene. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/BCKDHB#resources. Accessed April 18, 2021.
  • Catalog of Genes and Diseases. BCKDHB. Center for Genetic Medicine Research, Children’s National Hospital. http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCKDHB&search=maple%20syrup%20urine%20disease. Accessed April 18, 2021.
  • PubMed. BCKDHB gene. https://pubmed.ncbi.nlm.nih.gov/?term=BCKDHB+gene. Accessed April 18, 2021.
  • Additional resources for BCKDHB gene. https://www.ncbi.nlm.nih.gov/gene/594. Accessed April 18, 2021.
  • Testing, Scientific and Health. Maple Syrup Urine Disease. Lab Tests Online. https://labtestsonline.org/conditions/maple-syrup-urine-disease. Accessed April 18, 2021.
  • Testing, Scientific and Health. Genetic Testing Registry: BCKDHB. National Library of Medicine: Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/tests/19607/. Accessed April 18, 2021.

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