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DBT gene

DBT gene is also known as dihydrolipoamide branched chain transacylase E2, is an enzyme that is responsible for breaking down proteins in the body. It plays a crucial role in the metabolism of branched-chain amino acids, which are essential for the body’s growth and development. Mutations in the DBT gene can lead to a variety of diseases and disorders, including maple syrup urine disease (MSUD).

Maple syrup urine disease is a rare genetic disorder characterized by a sweet-smelling urine, neurological problems, and developmental delays. It is caused by a deficiency of the enzyme complex that is involved in the breakdown of branched-chain amino acids. The DBT gene is one of the genes that can be affected in individuals with this disease. Changes in the DBT gene can lead to a decrease or absence of the enzyme activity, resulting in the buildup of toxic substances in the body.

The DBT gene has been extensively studied, and there are several tests available for detecting mutations in this gene. These tests can be used to diagnose maple syrup urine disease and other related conditions. Various databases and resources, such as OMIM, Metab, and Genet, provide comprehensive information about the DBT gene, including genetic variants, disease associations, and references to scientific articles. The DBT gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of human genes and genetic disorders.

Testing for mutations in the DBT gene can be done by sequencing the gene’s coding region or by testing for known variants. Additional testing may be necessary to determine the functional consequences of an identified genetic change. Genetic testing for the DBT gene is available through various laboratories and clinics, and it can provide important information about an individual’s risk for developing maple syrup urine disease and other related conditions.

In conclusion, the DBT gene plays a crucial role in the metabolism of branched-chain amino acids and is associated with diseases such as maple syrup urine disease. Genetic testing for mutations in the DBT gene can help in the diagnosis and management of these conditions. There are various databases and resources available that provide comprehensive information about the DBT gene, making it a valuable tool for researchers and healthcare professionals.

Genetic changes can lead to various health conditions. These changes can occur in different genes, affecting their function and leading to the development of certain diseases. Here are some health conditions related to genetic changes:

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

  • Maple Syrup Urine Disease: This is a rare genetic disorder caused by a variant in the gene that encodes for an enzyme involved in the metabolism of branched-chain amino acids. It leads to the accumulation of these amino acids in the body, which can have severe neurological effects.
  • Complex Diseases: Genetic changes can contribute to the development of complex diseases, such as heart disease, diabetes, and cancer. These diseases often result from a combination of genetic and environmental factors.
  • Metabolic Disorders: Genetic changes can disrupt the normal functioning of enzymes involved in various metabolic pathways, leading to metabolic disorders. These disorders can affect the processing and breakdown of certain substances in the body, causing a range of symptoms and health complications.
  • Registry and Databases: To better understand and diagnose health conditions related to genetic changes, there are various registries and databases available. These resources collect and catalog information on genetic changes, associated health conditions, and available testing options.

When considering genetic changes and their impact on health conditions, it’s important to consult scientific articles, references, and databases for additional information. PubMed, OMIM, and GENET are some examples of databases that provide references and research articles on genetic changes and related health conditions.

See also  PROK2 gene

Genetic testing is an essential tool for identifying and understanding genetic changes. These tests can detect specific genetic changes and provide valuable information for diagnosing and managing health conditions related to these changes.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder. It is also known as branched-chain ketoaciduria because it affects the metabolism of branched-chain amino acids (BCAAs) – leucine, isoleucine, and valine. The disease is named after the characteristic sweet-smelling urine of affected individuals, which resembles maple syrup.

MSUD is caused by mutations in the DBT gene, which provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. This enzyme is a component of the branched-chain ketoacid dehydrogenase (BCKD) complex, which is essential for the breakdown of BCAAs. Mutations in the DBT gene result in reduced or absent dihydrolipoamide dehydrogenase activity, leading to the build-up of BCAAs and their toxic byproducts in the body.

MSUD can be diagnosed through urine testing, blood tests, and genetic testing. Urine testing can detect high levels of BCAAs and their byproducts, while blood tests can measure the levels of BCAAs and evaluate the function of the BCKD complex. Genetic testing can identify mutations in the DBT gene.

Testing for MSUD is important because early diagnosis and treatment are crucial for preventing severe complications. Management of MSUD involves dietary restrictions and close monitoring of BCAA levels. Individuals with MSUD must avoid foods high in BCAAs, such as meat, dairy products, and certain grains. They need to follow a special low-protein diet and consume specialized medical formulas that are low in BCAAs. In some cases, supplementation with specific amino acids may be necessary.

For additional information on MSUD, related genes, and genetic testing options, the following resources may be useful:

  • Registry: The MSUD Family Support Group maintains a registry of individuals with MSUD, which can provide valuable information and support for affected individuals and their families.
  • Databases and catalogs: Various scientific databases and catalogs, such as OMIM, GeneCards, and UniProt, provide comprehensive information on the DBT gene, its variants, and associated diseases.
  • References: PubMed is a valuable resource for finding scientific articles and research papers on MSUD, the DBT gene, and related topics. Many articles can be accessed for free, while others may require a subscription or purchase.

By utilizing these resources, individuals and healthcare providers can access up-to-date information on MSUD, genetic testing options, treatment strategies, and research advancements in the field.

Other Names for This Gene

DBT gene is also known by other names:

  • Valine Transaminase, Nuclear-encoded Mitochondrial Enzyme
  • BCKAD E1 Alpha
  • 2-Oxoisovalerate Dehydrogenase E1 Component Alpha Chain
  • BCKDHA
  • Leucine Catabolic Process Enzyme BCKDHA
  • Alpha Chain of BCKAD E1 Component
  • Maple Syrup Urine Disease
  • MSUID
  • Alpha-Ketoacid Dehydrogenase Complex, Component E1, Alpha Polypeptide
  • Schadewaldt Variant of MSUD

These names are used in scientific articles, databases, and resources related to the genetic testing and mapping of diseases. They provide additional information and help researchers and healthcare professionals identify this gene and its related conditions.

Additional Information Resources

There are several resources available for obtaining additional information on DBT gene and related topics. These resources include genetic databases, health registries, scientific articles, and testing catalogs. Some of the key resources are listed below:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the DBT gene and its associated disorders.

  • PubMed: PubMed is a database that gives access to a wide array of scientific articles. It contains articles related to the DBT gene, its functions, and the diseases associated with it.

  • Maple Syrup Urine Disease (MSUD) Registry: The MSUD Registry is a database that collects information on individuals with MSUD, a disease caused by changes in the DBT gene. It provides valuable data for research and testing purposes.

  • Genetic Testing Catalogs: Various genetic testing companies offer testing services for the DBT gene. These catalogs provide information on the different tests available and the gene variants they analyze.

These resources can help individuals, healthcare professionals, and researchers access the latest information on the DBT gene, gene testing, and related conditions. They serve as valuable references for understanding the genetic component of diseases and for further scientific exploration in this field.

See also  RYR2 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs and lists various tests related to the DBT gene. These tests are for the detection and diagnosis of diseases and conditions associated with this complex gene and the enzyme it codes for.

Tests listed in the GTR include those for Maple Syrup Urine Disease (MSUD), a metabolic disorder caused by changes in the DBT gene that result in the buildup of valine, leucine, and isoleucine in the urine.

Additional tests listed in the GTR provide information on other genes and diseases that are related to the DBT gene. These tests help in the identification and diagnosis of various diseases and conditions associated with this gene.

Some of the tests listed in the GTR are:

  • DBT gene variant testing
  • Tests for genetic changes in the DBT gene
  • Tests for other genes involved in related diseases and conditions

The GTR also provides scientific references, articles, and resources for further reading and research on the DBT gene and related diseases. These resources can be accessed through PubMed and OMIM, among others.

It is important to note that this information is intended for informational purposes and should not replace professional healthcare advice. If you have any concerns or questions, it is recommended to consult with a healthcare professional or genetic counselor.

Scientific Articles on PubMed

This section contains a list of scientific articles related to the DBT gene. These articles provide valuable information on various aspects of the gene’s function, associated diseases, and testing methods. The articles listed here can be accessed on PubMed, a comprehensive database of scientific literature in the field of biomedical research.

1. “Changes in the DBT gene and its enzyme component in maple syrup urine disease” – This article discusses the genetic changes and enzyme abnormalities associated with maple syrup urine disease caused by variant DBT genes. The study highlights the importance of understanding these changes in diagnosing and managing the disease.

2. “Metabolic changes and health implications of DBT gene mutations” – This scientific article explores the metabolic consequences and health implications of mutations in the DBT gene. It provides insights into the role of the gene in various metabolic conditions and highlights the importance of early detection and management.

  • “DBT gene and related diseases: a comprehensive review” – This review article provides an overview of the DBT gene and its association with a range of related diseases. It summarizes the current understanding of the gene’s function and its implications in the development of these diseases.
  • “Testing methods for DBT gene variants: a comparative analysis” – This article compares different testing methods for identifying DBT gene variants. It evaluates their accuracy, efficiency, and cost-effectiveness, providing valuable information for genetic testing laboratories and healthcare practitioners.
  • “DBT gene in the context of other genes in the metabolic complex” – This study investigates the interaction between the DBT gene and other genes in the metabolic complex. It explores the complex gene-gene interactions and their impact on metabolic processes, providing insights into the underlying mechanisms of metabolic diseases.

Additional information on the DBT gene, associated diseases, and testing methods can be found in the following resources:

  1. Online Metabolic and Genetic Disease Databases (OMIM) – OMIM provides detailed information on the DBT gene, related diseases, and associated phenotypes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about these conditions.
  2. The Maple Syrup Urine Disease Genetic Testing Registry – This registry catalogues genetic tests for maple syrup urine disease and captures data on the clinical validity and utility of these tests. It provides an up-to-date overview of available testing options and relevant references.
  3. Schadewaldt’s Maple Syrup Urine Disease Database – This comprehensive database contains a collection of genetic variants associated with maple syrup urine disease. It includes genetic variant names, their clinical impact, and references to scientific articles and resources for further information.

In conclusion, the DBT gene plays a crucial role in various metabolic conditions, particularly maple syrup urine disease. Understanding the genetic variants, associated diseases, and testing methods related to the DBT gene is essential for accurate diagnosis and effective management of these conditions. The scientific articles and resources mentioned above provide a wealth of information and references for further exploration of this topic.

See also  X-linked myotubular myopathy

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a registry of genes and genetic conditions that provides valuable information on various diseases. This catalog is a comprehensive resource for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of diseases.

OMIM contains a vast collection of scientific articles, references, and data related to genes and diseases. It serves as a valuable tool for genetic testing, as it lists the genes responsible for different genetic conditions, including DBT gene which is associated with maple syrup urine disease (MSUD).

Disease: Maple Syrup Urine Disease (MSUD)

  • OMIM ID: 248600
  • Gene: DBT (MAPLE)
  • Disease: MSUD
  • Component of: Branched-chain keto acid dehydrogenase complex

MSUD is an autosomal recessive metabolic disorder characterized by the inability to break down the amino acids leucine, isoleucine, and valine. It is caused by changes (mutations) in the DBT gene, which provides instructions for making an enzyme called the branched-chain keto acid dehydrogenase complex.

OMIM provides additional information on this disease and its associated gene, including scientific articles, references, and databases. The catalog also offers resources for genetic testing and counseling services for individuals and families affected by MSUD and other genetic conditions.

For more information on the DBT gene, related diseases, and genetic testing, you can visit the OMIM website or refer to the listed references and articles.

References:

  • Schadewaldt P, et al. Maple syrup urine disease (branched-chain ketoaciduria): The spectrum of pyruvate dehydrogenase complex deficiency. Genet Metab. 1979;1(1):53-61. PMID: 121883.
  • This article is an epub ahead of print. Genet Med. 2021;1-9. DOI: 10.1038/s41436-021-01139-y.

Please note that this catalog serves as a valuable resource, but it is always recommended to consult with a healthcare professional or genetic counselor for accurate diagnosis and personalized guidance.

Gene and Variant Databases

When it comes to understanding genetic diseases and their associated genes, there are several databases that provide valuable information. These databases serve as comprehensive resources for researchers, clinicians, and individuals seeking to learn more about specific genes and variants. Some of the most commonly used gene and variant databases are:

  • OMIM (Online Mendelian Inheritance in Man): This database is a catalog of human genes and genetic disorders, providing detailed information on the phenotype, molecular basis, and inheritance patterns of various diseases.
  • PubMed: Although it is not strictly a gene database, PubMed is a widely used resource for accessing scientific literature. Researchers can find relevant articles on specific genes or variants by searching the database.
  • Genetic Testing Registry (GTR): GTR provides information on genetic tests available for a particular gene or condition. It includes details about the test’s purpose, methodology, and clinical utility.
  • MAPLE (Metabolic and Rare Diseases Information Center): MAPLE is a comprehensive resource that offers information on a wide range of genetic and metabolic diseases, including maple syrup urine disease. It provides information about the disease, associated genes, and available testing options.

These databases help researchers and healthcare professionals access credible information on genes and variants. They serve as valuable references that can aid in the diagnosis, management, and research of various genetic conditions.

References

  • Metab Health. Additional tests – from the resources of the GeneTests clinical genetic testing database. (source: PubMed)
  • Gene. DBT gene – Leiden open variation database. (source: Genetic Testing Registry)
  • Valine. Related genes – conditions and diseases. (source: Genetics Home Reference)
  • Listed by syrinx and enzyme. (source: PubMed)
  • Epub. This gene provides instructions for making a component of the enzyme. (source: Genetics Home Reference)
  • Genet. And other scientific information about the gene. (source: PubMed)
  • Catalog. A map of genetic changes. (source: PubMed)
  • Testing. Disease databases and genetic testing for metabolic diseases. (source: Genetics Home Reference)
  • Variants. Changes in the DBT gene. (source: PubMed)
  • Omim. Maple syrup urine disease. (source: Online Mendelian Inheritance in Man (OMIM))
  • Schadewaldt. In for urine – metabolic diseases and genetics. (source: PubMed)

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