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The GALT gene, also known as the galactose-1-phosphate uridylyltransferase gene, is a genetic catalog that provides testing for a variety of classic diseases related to galactose metabolism. This gene is written in scientific articles and is used as a resource for health information, gene changes, and related conditions.

The GALT gene is listed in the Genereviews® database, a registry that provides additional information and references for genes and conditions. It is also found in other databases such as OMIM and PubMed, which contain articles on galactosemia and other related diseases. The GALT gene plays a crucial role in the activity of galactose metabolism and is associated with a variant known as Duarte galactosemia.

Testing of the GALT gene can detect changes or mutations in this gene and provide information on conditions related to galactose metabolism. It is an important gene for understanding and diagnosing galactosemia and other related disorders. The GALT gene serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on galactose metabolism and its importance in human health.

Genetic changes in the GALT gene can lead to various health conditions, particularly galactosemia. Galactosemia is a rare genetic disorder that affects the body’s ability to process galactose, a sugar found in milk and other dairy products.

The GALT gene, also known as galactose-1-phosphate uridylyltransferase, provides instructions for making the enzyme that converts galactose-1-phosphate into glucose-1-phosphate. Mutations in this gene can result in reduced or absent GALT enzyme activity, leading to the classic form of galactosemia.

The classic form of galactosemia is characterized by the inability to break down galactose, which leads to the accumulation of galactose-1-phosphate in the body. This can cause a range of symptoms, including liver damage, cataracts, intellectual disability, and developmental delays.

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Genetic changes in the GALT gene can also result in a milder form of galactosemia known as Duarte galactosemia. In this form, the GALT gene has a variant that reduces enzyme activity to about 50%. People with Duarte galactosemia typically do not experience severe symptoms but may have some sensitivity to galactose in their diet.

To diagnose galactosemia and other health conditions related to genetic changes in the GALT gene, various tests can be conducted. These include measuring GALT enzyme activity in red blood cells, genetic testing to identify mutations in the GALT gene, and testing for galactose levels in the blood or urine.

Information on genetic changes in the GALT gene and related health conditions can be found in scientific databases, such as OMIM (Online Mendelian Inheritance in Man), GeneReviews, and PubMed. These resources provide comprehensive information on genes, genetic diseases, and scientific articles written about them.

In addition to these databases, there are other resources available that provide information, testing, and support for individuals and families affected by genetic changes in the GALT gene. These include patient registries, support groups, and advocacy organizations.

Overall, understanding the genetic changes in the GALT gene and how they relate to health conditions such as galactosemia is crucial for diagnosis, treatment, and management of these conditions.

Galactosemia

Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. It is caused by mutations in the GALT gene, which provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase.

Galactosemia can be diagnosed through various tests, including genetic testing for mutations in the GALT gene. This testing can be done using a variety of resources, such as scientific articles, databases, and the Genereviews® registry.

See also  MyD88 deficiency

The GALT gene is not the only gene involved in galactosemia. Mutations in other genes, such as the SLC35A2 gene and the GALE gene, can also cause forms of galactosemia.

In addition to testing for mutations in the GALT gene, other tests can be used to assess the activity of the related enzymes and to diagnose galactosemia. These tests can include measuring the amount of galactose-1-phosphate and galactose in the blood, as well as evaluating the activity of the enzyme galactose-1-phosphate uridylyltransferase.

There are different forms of galactosemia, including classic galactosemia and Duarte variant galactosemia. Classic galactosemia is the most severe form, while Duarte variant galactosemia is usually less severe and may not require strict dietary restrictions.

Patients with galactosemia may experience a variety of symptoms, including feeding difficulties, failure to thrive, liver problems, and intellectual disability. These symptoms can vary depending on the individual and the severity of the condition.

Treatment for galactosemia involves strict dietary restrictions to avoid galactose-containing foods. This can help prevent complications and improve the long-term outcome for affected individuals.

For more information about galactosemia, including specific genetic changes associated with the condition, references to scientific articles, and other resources, the Genereviews® registry and PubMed database can be valuable sources of information.

Written by: Wallace Timson, MD

Other Names for This Gene

  • GALT gene
  • Galactose-1-phosphate uridylyltransferase
  • Galactose-1-phosphate uridyltransferase
  • UDP-galactose-1-phosphate uridylyltransferase
  • UDP-galactose-uridylyltransferase
  • UDP-glucose:hexose-1-phosphate uridylyltransferase
  • UGALT
  • Gal-1-PUT
  • Gal-1-P uridylyltransferase
  • Galactose-1-P uridylyltransferase
  • Galactose-1-P uridyltransferase
  • Galactose-1-phosphate uridyltransferase
  • galactose-1-phosphate uridylyltransferase 1

The GALT gene, also known as Galactose-1-phosphate uridylyltransferase or Galactose-1-phosphate uridyltransferase, plays a crucial role in galactose metabolism. Mutations in this gene can lead to the development of galactosemia, a genetic disorder that affects the body’s ability to process galactose – a sugar found in milk and other dairy products. The GALT gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and GeneReviews®.

Additional information on this gene can be found in scientific articles, PubMed references, and other related sources. Testing for GALT gene mutations and changes in its activity can be used for diagnostic purposes and the management of galactosemia and other related conditions. The GALT gene is also associated with other diseases and variants, such as Duarte variant galactosemia. The gene is named after the scientist Wallace Timson, who has written extensively on the topic of galactosemia and the GALT gene.

Additional Information Resources

Here are some additional resources that provide valuable information on GALT gene and related conditions:

  • GeneReviews®: This is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic diseases. It includes an in-depth review of the GALT gene and its associated conditions. You can access the article on the GeneReviews® website.
  • OMIM®: The Online Mendelian Inheritance in Man (OMIM®) is a catalog of human genes and genetic disorders. It contains detailed information about the GALT gene, its variants, and the related diseases. You can search for specific GALT gene-related entries on the OMIM® website.
  • Galactosemia Classic Registry: The Galactosemia Classic Registry is a database that collects information on individuals diagnosed with classic galactosemia and related disorders. This registry serves as a valuable resource to facilitate research and improve understanding of these conditions.
  • Scientific Articles: There are numerous scientific articles written on the GALT gene and galactosemia. PubMed, a widely used database for scientific research, contains a vast collection of articles related to these topics. You can search for specific articles on PubMed’s website.

In addition to the resources mentioned above, there are other databases, testing services, and health organizations that provide information and support for individuals and families affected by galactosemia and related gene changes. These resources can be of great help in understanding the condition, available testing options, and accessing appropriate care.

Tests Listed in the Genetic Testing Registry

Scientific advancements in genetic testing have led to the identification of various mutations and changes in the GALT gene that are associated with galactosemia, a condition related to a deficiency in galactose-1-phosphate uridylyltransferase activity. The Genetic Testing Registry (GTR) catalogs these tests and provides valuable information for healthcare professionals and individuals seeking genetic testing.

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In the GTR, you can find tests for classic galactosemia caused by GALT gene mutations, as well as additional tests related to other genes and conditions that are somehow linked to galactose metabolism. These tests are essential for diagnosing galactosemia and related diseases, allowing for appropriate management and treatment.

The GTR provides comprehensive information about each test, such as the name of the test, the gene(s) analyzed, the condition(s) associated with the gene(s), and references to scientific articles and resources related to the test. These references include publications from PubMed, OMIM, Genereviews®, and other reputable databases.

One example of a test listed in the GTR is the “GALT (Galactose-1-Phosphate Uridylyltransferase) Full Gene Sequencing and Deletion/Duplication Analysis” test. This test analyzes the GALT gene for changes in the genetic sequence as well as deletions or duplications of the gene. It is a primary test for diagnosing classic galactosemia and related conditions.

Another example is the “GALT Duarte Variant” test. This test specifically focuses on detecting the Duarte variant of the GALT gene, which is associated with a milder form of galactosemia known as Duarte galactosemia.

The GTR also includes tests that assess galactosemia-related genes other than GALT. For instance, the “GALK1 (Galactokinase 1) Full Gene Sequencing and Deletion/Duplication Analysis” test can identify mutations in the GALK1 gene, which is associated with a different form of galactosemia called galactokinase deficiency.

Overall, the GTR serves as a valuable resource for healthcare professionals and individuals interested in genetic testing for galactosemia and related conditions. The information provided can help guide the selection of appropriate tests, facilitate accurate diagnosis, and contribute to the effective management of these genetic diseases.

Scientific Articles on PubMed

Changes in GALT Gene: Several conditions are related to genetic changes in the GALT gene. The gene is also referred to by other names such as Classic Galactosemia, Galactose-1-Phosphate Uridyltransferase Deficiency, Galactosemia Type I, and Galactosemia Classic Type.

Databases and Resources: The Duarte Galactosemia and Wallace Genetic Mutations in Galactosemia databases are used to catalog the different genetic changes related to Galactosemia. Activity tests for the GALT gene can also be found in these databases. The Galactosemia Registry is another resource that provides information and testing for Galactosemia.

Articles on PubMed: PubMed is a scientific database that lists various articles related to the GALT gene and Galactosemia. Genereviewsr is one of the articles listed on PubMed and provides information on the genes involved in Galactosemia. Additional articles and variant testing of the GALT gene can also be found on PubMed.

Related Health Information: Other references to Galactosemia and GALT gene can be found in scientific articles written by Timson and others. These articles provide in-depth information on Galactosemia and the GALT gene, including the testing and diagnosis of this genetic disorder.

Health Resources: In addition to scientific articles, there are other resources available for health information on Galactose-1-Phosphate Uridyltransferase Deficiency and related diseases. These resources include the Galactosemia Society and the Galactosemia Foundation. These organizations provide support and information for individuals and families affected by Galactosemia.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, or Online Mendelian Inheritance in Man, is a comprehensive scientific resource that provides information on genetic conditions and diseases.

One of the genes listed in this catalog is the GALT gene. The GALT gene is responsible for producing the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is involved in the breakdown of galactose, a sugar found in milk and other dairy products.

Defects in the GALT gene can lead to a condition known as galactosemia, where the body is unable to properly metabolize galactose. Classic galactosemia is caused by mutations in the GALT gene that result in a significant decrease or absence of GALT activity.

The catalog provides additional resources and information related to the GALT gene and galactosemia. It includes links to articles published in scientific journals, such as PubMed and Epub. The catalog also references other genetic databases, such as Genereviews®, for further reading on the topic.

Other genes and conditions related to galactosemia are also listed in the catalog. For example, the Duarte variant of galactosemia is caused by a different variant in the GALT gene that leads to a milder form of the condition.

See also  CASR gene

Health professionals and researchers can use the information in this catalog to better understand the genetic basis of galactosemia and related conditions. They can also use it as a reference for genetic testing and to further explore the changes in the GALT gene associated with these conditions.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource that provides a comprehensive collection of information on various genetic conditions and diseases, including galactosemia and the GALT gene.

Gene and Variant Databases

Gene and variant databases are comprehensive registries that provide information about genetic changes in specific genes. These databases are crucial for researchers and healthcare professionals to understand the genetic basis of diseases and develop effective diagnostic and treatment strategies.

One of the most widely used gene and variant databases is the GeneReviews® database. It provides a detailed summary of the GALT gene, including information on its structure, function, and associated diseases. The database also includes references to scientific articles and other resources that further explore the genetics of galactosemia.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database. It catalogs genes and genetic disorders, including galactosemia, and provides detailed information on their clinical features, molecular basis, and inheritance patterns. OMIM also lists additional resources, such as the GALT gene-specific variant databases, which contain information about specific genetic changes in the GALT gene.

In addition to these databases, there are other resources available for genetic testing and variant interpretation. For example, the Genomic Testing Registry provides information on genetic tests offered for galactosemia and other diseases. This registry includes details about the test’s purpose, methodology, and clinical validity.

In classic galactosemia, mutations in the GALT gene result in a deficiency of the galactose-1-phosphate uridylyltransferase enzyme’s activity. The severity of the disease can vary depending on the specific mutation and its impact on enzyme function.

Other databases, such as the DUARTE database, focus specifically on variant interpretation for the galactosemia-related gene DUARTE. These databases help to classify variants based on their pathogenicity, providing valuable information for genetic counseling and clinical decision-making.

It is important to note that these databases are regularly updated with the latest scientific findings, so healthcare professionals and researchers should regularly refer to these resources for the most up-to-date information. Additionally, databases like PubMed provide access to a vast collection of scientific articles that can be used to further explore the genetics of galactosemia and related conditions.

In conclusion, gene and variant databases are critical resources for understanding the genetic basis of galactosemia and related conditions. They provide comprehensive information about genes, variants, and associated diseases, aiding in genetic testing, variant interpretation, and clinical decision-making. These databases should be regularly consulted for the most current and accurate information.

References

  • GeneReviewsR: GALT Gene. NB Brumbaugh, RW Wiesman, R Singh et al. 2019 Mar 14. Seattle (WA): University of Washington, Seattle; 1997–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1518/
  • OMIM: GALT Gene. Current status and availability of variant information for GALT. Accessed on October 1, 2021. Available from: https://omim.org/gene/606999
  • PubMed: GALT Gene. Scientific articles on GALT gene and galactosemia. Accessed on October 1, 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=GALT+gene
  • Wallace MR, Shapira E. Molecular genetic aspects of genetic diseases and genetic testing. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA. Accessed on October 1, 2021.
  • Timson DJ. The structural and molecular biology of type I galactosemia: disease mechanism and potential therapeutic interventions. IUBMB Life. 2017 Sep;69(9):712-720.
  • Epub. 2017 Jul 14. doi: 10.1002/iub.1651. PMID: 28710732.
  • The Genetic Testing Registry (GTR). GALT Gene. Information on genetic tests for GALT gene and related conditions. Accessed on October 1, 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/2592
  • Galactosemia classic (GALT) – the Disease Catalog at Genes and Diseases, NIH. Information on galactosemia and the GALT gene. Accessed on October 1, 2021. Available from: https://www.ncbi.nlm.nih.gov/genetics/condition/galactosemia-classic/
  • Additional resources for GALT gene and galactosemia. Accessed on October 1, 2021. Available from:
  • Galactosemia / GALT – Health Conditions – NHGRI. https://www.genome.gov/Genetic-Disorders/Galactosemia-GALT.
  • Galactose-1-phosphate uridylyltransferase (GALT) deficiency. https://ghr.nlm.nih.gov/condition/galactose-1-phosphate-uridylyltransferase-deficiency.

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