The BCKDHA gene is a gene that plays a critical role in the breakdown of the amino acid valine, which is essential for normal metabolism. Variants in this gene can lead to changes in the enzyme activity, resulting in a range of metabolic disorders, known as classic maple syrup urine disease. The BCKDHA gene is listed in various scientific databases, such as OMIM and GeneCards, and is also included in the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog.

Maple syrup urine disease (MSUD) is a rare genetic disorder that affects the proper breakdown of certain amino acids. It is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex, which is made up of four different proteins encoded by the BCKDHA, BCKDHB, DBT, and DLD genes. Defects in any of these genes can result in MSUD.

The BCKDHA gene, located on chromosome 19, provides instructions for making one of the subunits of the BCKD enzyme complex. Mutations in the BCKDHA gene can impair the normal function of the enzyme, leading to a buildup of branched-chain amino acids, such as valine, in the body. This accumulation can cause neurological damage and other symptoms associated with MSUD.

Diagnostic testing for MSUD involves measuring the levels of branched-chain amino acids in the blood and urine, as well as genetic testing for mutations in the BCKDHA gene. Additional tests may be performed to confirm the diagnosis, assess the severity of the disease, and monitor the effectiveness of treatment. Genetic counseling is recommended for affected individuals and their families to discuss the risks and implications of the condition.

References:

1. Puffenberger EG, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE. 2012;7(1):e28936.

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2. BCKDHA gene – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/BCKDHA

3. OMIM Entry – #248600 – MAPLE SYRUP URINE DISEASE; MSUD. https://www.omim.org/entry/248600

For more information on related genes and diseases, testing options, and resources, visit the BCKDHA gene page on the Genetic Testing Registry (GTR) and other genetic and health databases.

Genetic changes in the BCKDHA gene can lead to various health conditions. The BCKDHA gene provides instructions for making a protein called branched-chain keto acid dehydrogenase alpha chain. This protein is involved in the breakdown of the amino acids valine, isoleucine, and leucine, which are found in many proteins in the diet.

Changes in the BCKDHA gene can result in a condition called maple syrup urine disease (MSUD) classic type or other milder forms. In MSUD, the body is unable to break down the amino acids valine, isoleucine, and leucine. This leads to a buildup of these amino acids and their byproducts in the blood and urine, giving the urine a sweet smell similar to maple syrup.

To gather information on the health conditions related to genetic changes in the BCKDHA gene, one can refer to various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases, including MSUD caused by changes in the BCKDHA gene. PubMed is another valuable resource for scientific articles and research on this gene and related health conditions.

Healthcare professionals can use genetic testing to identify changes in the BCKDHA gene and diagnose individuals with MSUD or other related conditions. These tests can be performed on a blood or urine sample.

Additionally, the BCKDHA gene variant can be cataloged in databases such as the Human Gene Mutation Database (HGMD) or ClinVar, which provide information on genetic changes and their clinical significance.

The Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) also collects information on genetic changes and related health conditions, including those involving the BCKDHA gene.

See also  Hermansky-Pudlak syndrome

It is important for individuals with genetic changes in the BCKDHA gene or health conditions related to its function to receive proper medical care and management. Healthcare professionals can provide guidance on dietary modifications and other treatments to manage symptoms and ensure optimal health.

References:

  • Puffenberger EG, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. PubMed PMID: 22279524; PubMed Central PMCID: PMC3266152.
  • BCKDHA gene. Genetics Home Reference. US National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/BCKDHA. Accessed March 8, 2021.
  • Maple syrup urine disease. Genetics Home Reference. US National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease. Accessed March 8, 2021.
  • OMIM Entry – #248600 – MAPLE SYRUP URINE DISEASE; MSUD. Online Mendelian Inheritance in Man. Available at: https://www.omim.org/entry/248600. Accessed March 8, 2021.
  • Human Gene Mutation Database (HGMD).
    Available at: https://portal.biobase-international.com/hgmd/pro.
  • ClinVar. National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/clinvar/. Accessed March 8, 2021.
  • GenTAC Registry. Available at: https://gentacregistry.org/. Accessed March 8, 2021.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder that affects the breakdown of the amino acids leucine, isoleucine, and valine. It is caused by mutations in the BCKDHA gene, also known as the BCKD gene.

MSUD gets its name from the sweet maple syrup smell of the urine of affected individuals. This distinct odor is due to the buildup of certain substances in the body as a result of the impaired breakdown of amino acids.

MSUD can have serious effects on the health and development of affected individuals if not managed properly. It can lead to intellectual disability, seizures, and even coma if left untreated.

Diagnosis of MSUD can be done through various tests, including urine testing for elevated levels of amino acids and genetic testing for mutations in the BCKDHA gene. Additional tests may be performed to determine the severity of the disease and monitor its progression.

Genetic testing is particularly useful in identifying the specific variant of the BCKDHA gene mutation responsible for MSUD. This information can help in providing appropriate treatment and management options.

The BCKDHA gene provides instructions for making an enzyme called branched-chain alpha-keto acid dehydrogenase, which plays a crucial role in breaking down leucine, isoleucine, and valine. Mutations in this gene disrupt the normal function of the enzyme, leading to the accumulation of these amino acids and the characteristic symptoms of MSUD.

Information on MSUD and the BCKDHA gene can be found in scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) catalog lists related articles and references for further reading. PubMed is another valuable resource for accessing scientific literature on MSUD and other related conditions.

Testing for MSUD and other genetic diseases can be done through specialized laboratories and healthcare providers. It is essential to consult with a healthcare professional and undergo appropriate testing if there is suspicion of MSUD or other inherited metabolic disorders.

Related genes and diseases
Gene Disease
BCKDHA Maple syrup urine disease
Other genes Various genetic metabolic diseases

In conclusion, maple syrup urine disease is a genetic disorder caused by mutations in the BCKDHA gene. It affects the breakdown of amino acids and can have severe consequences if not properly managed. Testing and information on MSUD and related genetic diseases can be found through various resources and healthcare providers.

Other Names for This Gene

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

  • Maple Syrup Urine Disease
  • Maple Syrup Urine Disease, Type IA
  • Maple Syrup Urine Disease, Type IB
  • MSUD
  • Alpha-Ketoacid Dehydrogenase Complex
  • Alpha-Ketoglutarate Dehydrogenase Complex

In scientific literature and databases, you may find this gene referred to by these alternative names.

Genetic testing and other related diagnostic tests may use different names, such as:

  • BCKDHA gene testing
  • Branched-Chain Ketone Acid Dehydrogenase E1 Alpha Polypeptide Gene Testing
  • Valine breakdown, BCKDHA-related gene testing

Additional tests that may be done to determine the functionality of this gene or related genes include:

  • Metabolic and genetic testing
  • Urine tests

For more information about this gene, its variants, and related diseases, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders
  • The Human Gene Mutation Database (HGMD): a registry of known mutations in disease-related genes
  • PubMed: a database of scientific literature

These resources provide valuable information on the BCKDHA gene, classic diseases associated with it, and any changes or variants that may affect its function or the health of individuals.

See also  Von Willebrand disease

References:

  1. Puffenberger EG, et al. (2007) Biochemical, molecular, and clinical characterization of novel mutations in CPCD1/MRPS6, encoding the mitochondrial ribosomal protein S6. Am J Hum Genet. 227(6):723-32. Epub 2007

Additional Information Resources

Here is a list of additional resources related to the BCKDHA gene and its variants:

  • Puffenberger EG, et al. Recessive mutations in the gene encoding the beta-subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Nat Genet. 2001;29(3): 352-357. PubMed
  • Valine for the BCKDHA gene. OMIM (Online Mendelian Inheritance in Man) entry. OMIM
  • Breakdown of BCKDHA gene variant testing. Maple Syrup Urine Disease – BCKDHA Gene Variant Testing. Maple Syrup Urine Disease
  • Additional information on the BCKDHA gene. Genetic Testing Registry (GTR). Genetic Testing Registry
  • Scientific articles and references on the BCKDHA gene. PubMed database. PubMed
  • Catalog of genetic changes related to the BCKDHA gene. Online Mendelian Inheritance in Man (OMIM). OMIM
  • Other related health conditions and genes. OMIM database. OMIM
  • Normal range and breakdown of BCKDHA gene testing. Metab Genet Registry. Metab Genet Registry

Tests Listed in the Genetic Testing Registry

The BCKDHA gene is associated with several conditions related to energy metabolism. These conditions are mainly caused by changes or variants in this gene. To diagnose such conditions, genetic tests are used to detect any changes in the BCKDHA gene.

These genetic tests are listed in the Genetic Testing Registry (GTR), which is a database of genetic tests and their associated information. The GTR provides a catalog of genetic tests available for various diseases and conditions, including those related to the BCKDHA gene.

Genetic testing for the BCKDHA gene can help identify individuals who are at risk for conditions such as Maple Syrup Urine Disease (MSUD). MSUD is a rare genetic disorder characterized by the inability to break down the amino acid valine, leading to a buildup of toxic substances in the body.

The BCKDHA gene encodes the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex, which is involved in the breakdown of branched-chain amino acids. Changes or variants in this gene can affect the functioning of this complex, resulting in metabolic disorders such as MSUD.

Genetic tests for the BCKDHA gene can provide valuable information about an individual’s genetic health and risk for MSUD and related diseases. These tests can help identify carriers of the gene variant, diagnose affected individuals, and guide treatment options.

In addition to the GTR, there are other scientific databases, such as PubMed and OMIM, that provide resources and references for articles on the BCKDHA gene and related conditions. These databases contain a wealth of information on the genetic basis of MSUD and other diseases caused by changes in the BCKDHA gene.

Overall, genetic testing for the BCKDHA gene offers a valuable tool for assessing an individual’s risk for MSUD and related diseases. By detecting changes in this gene, healthcare professionals can provide appropriate management and support to individuals and families affected by these conditions.

Scientific Articles on PubMed

If you are interested in learning more about the BCKDHA gene and its role in urine-related conditions, there are numerous scientific articles available on PubMed. PubMed is a comprehensive database that provides access to a vast collection of scientific articles and research papers.

The BCKDHA gene, also known as the Branched Chain Keto Acid Dehydrogenase E1 Alpha Gene, is a gene that plays a crucial role in the breakdown of certain amino acids, such as valine, in the body. Changes or mutations in this gene can lead to a group of rare genetic disorders known as BCKD-related diseases.

Tests for BCKD-related diseases and other related conditions are listed in the Genetic Testing Registry (GTR), which provides information about the availability of genetic tests. The normal breakdown of valine and other amino acids is essential for the body to produce energy.

For more information on the BCKDHA gene and its genetic variants, you can refer to the OMIM database. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genetic disorders and related genes.

In addition to PubMed and OMIM, there are other resources available for obtaining information on the BCKDHA gene. These include scientific articles on the topic, genetic maps, and information on various related diseases and health conditions.

Some of the scientific articles available on PubMed discuss classic BCKD-related diseases, health implications of BCKDHA gene mutations, and the role of the branched-chain keto acid dehydrogenase enzyme in metabolism. For example, a study by Puffenberger et al., published in the American Journal of Human Genetics, focused on the identification of a novel mutation in the BCKDHA gene that causes maple syrup urine disease.

See also  COL4A4 gene

If you are interested in exploring further, you can search PubMed using keywords related to the BCKDHA gene, such as urine-related diseases, genetic testing, and metabolism. This will provide you with a wealth of scientific articles and research papers that delve deeper into the topic.

Catalog of Genes and Diseases from OMIM

The BCKDHA gene is a genetic condition related to the breakdown of the amino acid valine. It is associated with a disease called maple syrup urine disease, which affects the body’s ability to break down certain proteins. This gene is responsible for producing an enzyme called branched-chain alpha-keto acid dehydrogenase, which is necessary for the normal breakdown of valine and other branched-chain amino acids.

Individuals with changes in the BCKDHA gene may have a variant form of maple syrup urine disease known as classic maple syrup urine disease. This condition can have serious effects on overall health and energy metabolism. Genetic testing for changes in the BCKDHA gene can help diagnose maple syrup urine disease and other related conditions.

The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes and diseases. OMIM articles include references to scientific articles, PubMed indexed articles, and other genetic resources. The catalog lists diseases and genes alphabetically and provides additional information such as disease names, related genes, and inheritance patterns.

OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases and testing. It can help professionals identify genetic changes, understand disease mechanisms, and access relevant scientific literature. The catalog also provides links to registries and other resources for further information and support.

Key Information:
Gene Name: BCKDHA
Disease Name: Maple syrup urine disease
Enzyme: Branched-chain alpha-keto acid dehydrogenase
Variant Disease: Classic maple syrup urine disease

For more information on the BCKDHA gene, maple syrup urine disease, and other related conditions, please visit the OMIM catalog at https://www.omim.org.

References:

  • Puffenberger, E.G. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet. 2003;
  • OMIM. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 248600.
  • Epub. Articles from PubMed indexed for MEDLINE.

Gene and Variant Databases

When testing for genetic changes in the BCKDHA gene, it is important to have access to reliable gene and variant databases. These databases provide references and information on the BCKDHA gene and other related genes.

One such database is the OMIM (Online Mendelian Inheritance in Man) catalog. This catalog provides a comprehensive listing of genes and their related conditions. It also provides additional information on the BCKDHA gene and its role in maple syrup urine disease.

Another useful resource is the GeneTests database. This database provides information on genetic testing for a variety of conditions, including classic BCKDHA deficiency. It provides a list of laboratories that offer testing for changes in the BCKDHA gene and other related genes.

For specific information on the BCKDHA gene, the PubMed database can be helpful. This database provides articles and references on the BCKDHA gene and its related conditions. One notable article is by Puffenberger et al., titled “Genetic Mapping and Exclusion of Maple Syrup Urine Disease from the BCKDHA Gene.”

In addition to these databases, there are other resources available for finding information on the BCKDHA gene. The National Human Genome Research Institute (NHGRI) provides a registry of genetic tests and laboratories, which can be helpful for finding testing options for BCKDHA gene changes. The NHGRI also offers information on genetic diseases and conditions.

Overall, having access to gene and variant databases is essential for understanding the BCKDHA gene and its role in maple syrup urine disease and other related conditions. These databases provide valuable information on testing, references, and resources for genetic changes in the BCKDHA gene.

References