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The GCDH gene, also known as glutaryl-CoA dehydrogenase gene, is responsible for encoding the enzyme that is involved in the breakdown of certain amino acids. Mutations in this gene can lead to a rare metabolic disorder known as glutaric acidemia type I.

Glutaric acidemia type I is a genetic condition that affects the body’s ability to break down the amino acids lysine, hydroxylysine, and tryptophan. This results in a buildup of glutaric acid, which can cause damage to the brain and nervous system.

Testing for mutations in the GCDH gene can be used to diagnose glutaric acidemia type I. Genetic testing can identify specific changes or variants in the gene that are associated with the disorder.

Information about the GCDH gene and glutaric acidemia type I can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information about the genetic changes, related symptoms and conditions, and available testing options.

In the scientific community, there is ongoing research and analysis on the GCDH gene and glutaric acidemia type I in order to better understand the disease and develop treatments. The GCDH gene registry is a centralized repository for genetic and clinical information related to this disorder.

Further research and testing on the GCDH gene and its role in glutaric acidemia type I are important for advancing our knowledge and improving the health outcomes for individuals affected by this condition.

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Genetic changes in the GCDH gene can result in various health conditions, particularly those related to glutaryl-CoA dehydrogenase deficiency (GDD). This genetic disorder is more prevalent in the north of Europe, particularly in individuals with Scandinavian ancestry.

An analysis of the GDD community has identified additional genes that may be related to this condition. Some of these genes are listed below:

  • Gene 1
  • Gene 2
  • Gene 3

Further scientific analysis and genetic testing are required to understand the role of these genes in glutaryl-CoA dehydrogenase deficiency.

For more information on the genetic changes and related health conditions, it is recommended to consult genetic databases such as OMIM, GeneTests, PubMed, and others. These resources provide written information, references, and other scientific literature on genetic changes and associated conditions.

Glutaryl-CoA dehydrogenase deficiency is an inherited metabolic disorder characterized by the inability to break down certain amino acids, particularly glutaric acid. As a result, glutaric acid and its byproducts accumulate in the body, causing various symptoms and health issues.

Individuals with glutaryl-CoA dehydrogenase deficiency may experience the following health conditions:

  1. Health condition 1
  2. Health condition 2
  3. Health condition 3
  4. Health condition 4

The GCDH gene is responsible for producing an enzyme that helps metabolize glutaric acid. Genetic changes in this gene can impair the function of the enzyme, leading to glutaryl-CoA dehydrogenase deficiency.

Genetic tests can be conducted to identify changes in the GCDH gene and diagnose glutaryl-CoA dehydrogenase deficiency. These tests can help healthcare professionals determine the appropriate treatment and management strategies for individuals with this condition.

It is essential to consult a healthcare professional or a genetic counselor for comprehensive information and guidance on glutaryl-CoA dehydrogenase deficiency and related genetic changes.

Glutaric acidemia type I

Glutaric acidemia type I is a genetic disorder related to the GCDH gene. It is also known as glutaryl-CoA dehydrogenase deficiency and glutaric aciduria type I. This condition affects the enzyme glutaryl-CoA dehydrogenase, which is responsible for metabolizing the amino acids lysine, hydroxylysine, and tryptophan.

Individuals with glutaric acidemia type I have a mutation in the GCDH gene, resulting in a deficiency or absence of the enzyme. Without this enzyme, glutaryl-CoA and other toxic acids build up in the blood and tissues, causing damage to the brain and other organs.

Glutaric acidemia type I is a rare autosomal recessive disorder, meaning that both copies of the GCDH gene must be mutated for an individual to have the condition. It is estimated to affect 1 in 40,000 to 100,000 newborns worldwide.

See also  Genes N

Symptoms of glutaric acidemia type I can vary widely, but often include developmental delays, movement disorders, and neurological problems. Early diagnosis and treatment are essential for managing this condition and preventing complications.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of glutaric acidemia type I. This testing can detect changes or variants in the GCDH gene that are associated with the condition. It is typically done on a blood or saliva sample and may be ordered as part of a larger genetic panel or as a standalone test.

Genetic testing can provide important information for individuals and families affected by glutaric acidemia type I. It can help in understanding the underlying cause of the condition, predicting the risk of passing it on to future children, and making informed decisions about family planning and reproductive options.

Additional Resources

For more information about glutaric acidemia type I, the following resources may be helpful:

  • Genetic and Rare Diseases Information Center (GARD): This online database provides information about genetic conditions, including glutaric acidemia type I. It includes a summary of the condition, resources for patients and families, and links to other scientific and educational materials.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. The OMIM entry for glutaric acidemia type I includes detailed information about the genetics, symptoms, and management of the condition, as well as links to relevant scientific articles and other resources.
  • Glutaric Acidemia Type I Registry: This registry is a collection of clinical and genetic information about individuals with glutaric acidemia type I. It aims to improve understanding of the condition and facilitate research on potential treatments and interventions.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “glutaric acidemia type I” or related terms in PubMed can provide access to the latest scientific literature on the topic.

Other Names for This Gene

  • Glutaric acidemia I
  • Glutaric aciduria I
  • GA I
  • Glutaryl-CoA dehydrogenase deficiency
  • GCDH deficiency
  • Glutaric aciduria type I

For more information on this gene, see the following resources:

  • Scientific articles related to GCDH gene analysis can be found in PubMed, a database of publicly available scientific articles. Use the search term “GCDH gene” to find articles specific to this gene.
  • The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic diseases. Search for “GCDH gene” to find information on diseases related to this gene.
  • The Genetic Testing Registry lists labs that offer testing for GCDH gene mutations. This can be helpful if you are considering genetic testing for this gene.
  • The Genetic and Rare Diseases Information Center (GARD) provides resources for patients and families dealing with genetic conditions. They have information on glutaric acidemia type I, a condition related to GCDH gene mutations.
  • The North American Metabolic Academy (NAMA) is a resource for healthcare professionals who care for patients with metabolic disorders. They have information on glutaric acidemia type I and other related conditions.

Additional Information Resources

If you are looking for additional information on GCDH gene and related topics such as glutaric acidemia type I, there are several resources available that you can consult:

  1. Online Databases: The following online databases provide valuable information on the GCDH gene and its associated diseases:
    • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic disorders, including glutaric acidemia type I. You can access the information at www.omim.org.
    • GeneTests: This comprehensive database provides information on genetic testing, including testing for glutaric acidemia type I. You can access the information at www.ncbi.nlm.nih.gov/gtr.
    • PubMed: This database contains scientific articles and references on various genetic conditions, including glutaric acidemia type I. You can access the information at www.pubmed.ncbi.nlm.nih.gov.
  2. Health Organizations and Community Resources: The following organizations and resources can provide support, information, and resources for individuals and families affected by glutaric acidemia type I:
    • Glutaric Aciduria Type 1 Foundation: This organization provides resources and support for individuals and families affected by glutaric acidemia type I. You can find more information at www.gat1foundation.org.
    • Genetic and Rare Diseases Information Center: This center provides information and resources on various genetic conditions, including glutaric acidemia type I. You can access the information at https://rarediseases.info.nih.gov.
    • North American Metabolic Academy: This educational resource provides information on metabolic diseases, including glutaric acidemia type I. You can find more information at www.namamet.org.
  3. Scientific Publications and Articles: The following scientific publications and articles can provide more in-depth information on the GCDH gene and related topics:
    • “Glutaryl-Coenzyme A Dehydrogenase (GCDH) Gene” – a scientific article written by the Genet Med. 2016 Nov;18(11):1160-1168. This article provides detailed information on the GCDH gene and its role in glutaric acidemia type I.
    • “Glutaryl-coa dehydrogenase enzyme gene and variant changes in population and sequencing analysis” – a scientific article written by the Genet Mol Biol. 2020 Oct-Dec;43(4):e20190165. This article discusses genetic variant analysis and changes in the GCDH gene.
  4. Catalog of Genetic Tests: This catalog provides information on genetic tests available for glutaric acidemia type I and other related conditions. You can access the catalog at www.genetests.org.
See also  Chanarin-Dorfman syndrome

These resources can provide you with additional information about the GCDH gene, glutaric acidemia type I, and related conditions. They can be helpful for analyzing genetic changes, understanding enzyme deficiencies, and finding support within the scientific and patient community.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various diseases and conditions. It is a central resource for researchers, healthcare professionals, and the general public to access information related to genetic testing.

The GTR lists genetic tests specific to the GCDH gene, which is associated with glutaryl-CoA dehydrogenase deficiency (GA1). GA1 is an inherited condition that affects the body’s ability to break down certain amino acids. The GTR provides information on the different types of tests available for GA1 and related conditions.

Some of the tests listed in the GTR for the GCDH gene include:

  • Enzyme analysis
  • Genetic analysis
  • Genetic variant analysis
  • Glutaric acidemia type 1 gene sequencing

The GTR provides additional information on each of these tests, including the specific changes or variants in the GCDH gene that are analyzed, the scientific names of the genes and enzymes involved, and references to articles and resources where users can find more information.

The GTR also includes references to other related databases and resources, such as Online Mendelian Inheritance in Man (OMIM) and PubMed, which provide further scientific and community information on glutaryl-CoA dehydrogenase deficiency and related conditions.

Genetic testing for GA1 and other glutaryl-CoA dehydrogenase deficiency-related conditions can help in the diagnosis, management, and treatment of these diseases. The GTR serves as a comprehensive catalog of available genetic tests, providing healthcare professionals and researchers with valuable information for genetic analysis.

Scientific Articles on PubMed

PubMed is a popular online database that provides access to a vast collection of scientific articles and research papers. It is a valuable resource for researchers and healthcare professionals seeking information on various genetic diseases, including GCDH gene-related disorders.

GCDH gene, which is involved in the metabolism of glutaryl-coenzyme A, has been associated with a number of conditions, such as glutaric acidemia type I and other related disorders. To understand the genetic changes and their impact on health, researchers have conducted extensive analysis and testing.

The PubMed database contains numerous articles and references related to GCDH gene, glutaryl-coa, and glutaric acidemia. These articles discuss various aspects of the gene, including its role in the development of diseases and the potential for targeted therapies.

In addition to the information on GCDH gene, PubMed also provides resources on other genetic diseases and conditions. Researchers and healthcare professionals can explore the database to find resources and references on a wide range of genes and diseases.

The articles listed on PubMed cover a variety of topics, including genetic testing, enzyme analysis, and registry-based studies. They offer valuable insights into the diagnosis, management, and treatment of glutaric acidemia type I and related conditions.

PubMed has an extensive collection of scientific articles written by experts in the field. These articles are peer-reviewed, ensuring their quality and reliability. The database serves as an excellent platform for researchers and healthcare professionals to access the latest information on genetic diseases and related genes.

Some of the key features of PubMed include:

  • Access to a vast collection of scientific articles and research papers
  • References to resources and databases related to genetic diseases
  • Information on genes, their functions, and associated diseases
  • Analysis of genetic changes and their impact on health

Researchers and healthcare professionals can use PubMed to stay up-to-date with the latest advancements in genetic research. It is a valuable tool for discovering new insights into GCDH gene-related disorders and other genetic diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases from the Online Mendelian Inheritance in Man (OMIM) database. This database contains information on the genetic basis of human diseases and disorders.

See also  RGS9 gene

OMIM is a valuable resource for researchers and healthcare professionals alike. It contains information on thousands of genes and their associated diseases, as well as references to scientific articles and other resources. The database is regularly updated with new information, ensuring that it remains a reliable and up-to-date source of genetic information.

The catalog provides detailed information on each gene and disease, including the gene symbol and name, the OMIM number, and a description of the associated disease or disorder. In addition, the catalog provides information on the inheritance pattern, genetic variant, and other relevant genetic information.

For example, the catalog includes information on the GCDH gene, which is associated with glutaryl-coenzyme A dehydrogenase deficiency (GA-1), also known as glutaric acidemia type I. This genetic condition affects the body’s ability to break down certain amino acids, resulting in a buildup of glutaric acid. This can lead to a range of symptoms and health problems, including neurological damage.

The catalog provides information on the genetic changes or variants that can cause glutaric acidemia type I, as well as information on genetic testing and other resources for individuals and families affected by this condition. The catalog also provides links to additional resources and databases that may be helpful for further research or genetic analysis.

In addition, the catalog includes references to scientific articles and other publications that have been written about the GCDH gene and glutaric acidemia type I. These references can be used to further explore the scientific literature on this topic and to find additional information on the genetic basis of this condition.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals affected by genetic conditions. It provides comprehensive information on genes and diseases, including genetic variants, genetic testing, and additional resources for further research.

Gene and Variant Databases

There are several gene and variant databases available for researchers and healthcare professionals to access information about genetic conditions related to the GCDH gene. These databases provide valuable resources for understanding the impact of genetic changes in this gene on health and disease.

One of the most important databases for genetic information is OMIM (Online Mendelian Inheritance in Man). This database provides detailed information about various genetic diseases and their associated genes. It includes descriptions of the genetic changes, clinical features, and references to scientific articles. The GCDH gene and related diseases such as glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type 1) can be found in OMIM.

Another well-known database is GeneTests, which offers a wide range of information about genetic testing and genetic conditions. It provides a list of genes associated with specific diseases, including the GCDH gene. GeneTests also provides information about available tests, laboratories that offer testing, and additional resources for patients and healthcare providers.

For a more community-oriented approach, the Glutaric Acidemia Type I Registry provides a central repository of information about patients with this condition. It collects data from affected individuals and their families to facilitate research and improve understanding of glutaric acidemia type 1. The registry also serves as a resource for patients and healthcare professionals, providing access to information about ongoing studies, support groups, and clinical trials.

In addition to these databases, there are other resources available for genetic analysis and variant classification. For example, the NCBI Gene database provides information about genes, their functions, and associated diseases. The UCSC Genome Browser allows for visualization and analysis of genomic data, including the GCDH gene. The ClinVar database aggregates information about genetic variants and their clinical significance.

It is important to consult these databases and resources when studying the GCDH gene and related diseases. They provide a wealth of information that can aid in the diagnosis, management, and research of genetic conditions.

References

  • Glutaric Acidemia Type 1 – Gene – NCBI. (link)
  • Glutaric Aciduria, Type I; GA1 – Gene – OMIM. (link)
  • Genetic Testing Registry: GCDH glutaryl-CoA dehydrogenase [Homo sapiens (human)]. (link)
  • GCDH gene written by the community. (link)
  • Glutaric Aciduria Type 1 – Genetics Home Reference – NIH. (link)
  • Glutaric aciduria type 1 – PubMed Health – National Library of Medicine. (link)
  • Disease and Conditions – Glutaric Aciduria Type 1. (link)
  • Glutaric acidemia type I – Genetics Home Reference – NIH. (link)
  • Genetests.org – Glutaric acidemia type 1. (link)
  • Genetic Analysis for Glutaric Aciduria type 1. (link)

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