The GALE gene, also known as galactose-4-epimerase, is a genetic gene that plays a crucial role in the metabolism of galactose-4-epimerase. This gene is responsible for encoding the enzyme UDP-galactose-4-epimerase, which is involved in the conversion of UDP-galactose to UDP-glucose. This process is essential for the breakdown and utilization of galactose, a sugar found in various foods.
GALE gene mutations can lead to a range of genetic diseases, such as galactosemia, a condition characterized by the body’s inability to properly metabolize galactose. Galactosemia can cause severe complications, including liver damage, developmental delays, and cataracts.
Various scientific articles and studies have extensively discussed the GALE gene and its function in galactosemia and other related conditions. These articles provide additional information, references, and resources for further exploration.
For genetic testing and diagnosis, several databases and registries list GALE as a gene of interest. These databases include OMIM, PubMed, and the Genetic Testing Registry. By analyzing and identifying changes or variants in this gene, healthcare professionals can better understand and manage galactosemia and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the GALE gene (also known as UDP-galactose-4-epimerase gene) can lead to various health conditions. One of the main conditions associated with changes in this gene is galactosemia, a rare genetic disorder that affects the body’s ability to process galactose, a type of sugar found in milk and other dairy products.
Galactosemia is typically caused by mutations in the GALE gene, which results in a deficiency of the galactose-4-epimerase enzyme. This enzyme is responsible for converting glucose to galactose and galactose to glucose. When the GALE gene is altered, the function of the enzyme is impaired, leading to the accumulation of galactose and its metabolites in the body.
Galactosemia can cause a range of complications, including liver damage, kidney problems, cataracts, and intellectual disabilities. Infants with galactosemia may experience feeding difficulties, jaundice, and failure to thrive. If left untreated, galactosemia can have serious long-term effects on health and development.
To diagnose galactosemia and confirm genetic changes in the GALE gene, specialized tests are available. These tests can detect mutations or variants in the gene and provide information about the specific genetic changes involved. Genetic testing for galactosemia is often performed during newborn screening or recommended for individuals with symptoms or a family history of the condition.
Additional health conditions related to genetic changes in the GALE gene are currently under investigation. Scientific articles and references in databases such as PubMed and OMIM catalog genetic changes in GALE and their potential association with other diseases. However, more research is needed to fully understand the role of GALE gene variants in these conditions.
For more information about galactosemia and genetic testing for GALE gene changes, individuals can consult medical professionals, genetic counselors, or resources provided by organizations such as the Galactosemia Foundation. These resources can provide up-to-date information, support, and assistance in navigating the complexities of genetic conditions.
Galactosemia
Galactosemia is a genetic disorder caused by mutations in the GALE gene. It affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. Without proper functioning of the GALE gene, galactose cannot be converted to glucose, resulting in a buildup of galactose and its toxic byproducts in the body.
Galactosemia is a rare disorder, affecting approximately 1 in every 30,000 to 60,000 newborns worldwide. It is usually inherited in an autosomal recessive manner, meaning that both parents must carry a mutated GALE gene in order for their child to be affected.
Galactosemia can cause a range of health problems, including liver disease, kidney problems, intellectual disability, and developmental delays. It can also lead to cataracts, speech difficulties, and hormonal imbalances. Early diagnosis and treatment are crucial to reduce the risk of complications.
Diagnosis of galactosemia is typically done through newborn screening, which involves testing the baby’s blood for elevated levels of galactose. Further testing, such as genetic testing or enzyme activity testing, may be done to confirm the diagnosis and identify the specific variant of the GALE gene that is causing the condition.
| Resources | Website |
|---|---|
| Genetic Testing Registry (GTR) | https://www.ncbi.nlm.nih.gov/gtr |
| Online Mendelian Inheritance in Man (OMIM) | https://omim.org |
| PubMed | https://www.ncbi.nlm.nih.gov/pubmed |
These resources provide information on the GALE gene, its function, and the genetic changes associated with galactosemia. They also catalog related genetic diseases, including other forms of galactosemia. Scientific databases such as OMIM and GTR are valuable tools for researchers, clinicians, and individuals seeking more information on galactosemia and other genetic conditions.
Other Names for This Gene
The GALE gene is also known by other names:
- UDP-galactose-4-epimerase gene
- GALACTOSE-4-EPIMERASE
- UDP-galactose-4-epimerase and UDP-glucose-4-epimerase
- UDP-glucose
- UDP-galactose-4-epimerase
- UDP-glucose-4-epimerase
- GALE
- Galactosemia, GALE Type
- Galactosemia, GALE-type
- Fridovich-Keil syndrome, GALE variant
- Changes in the GALE gene
- UDP-galactose-4-epimerase deficiency
- Genetic variants in the GALE gene
- Additional related genes listed in OMIM for GALE gene
Additional scientific resources on GALE gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide information on genetic function, genetic conditions, diseases, testing, and other related articles.
Health testing and information on GALE gene can be obtained from resources such as genetic testing labs, health registries, and genetic counseling.
Additional Information Resources
For additional information on the GALE gene and related conditions, the following resources can be helpful:
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information on genes, genetic disorders, and related traits. The OMIM entry for the GALE gene can be found at https://www.omim.org/entry/606953.
- PUBMED is a search engine for scientific articles. Searching for “GALE gene” or “galactosemia” on PubMed can provide access to research papers on the topic.
- GeneReviews is a resource that provides expert-authored, peer-reviewed information on genetic disorders. The GeneReview for GALE-Related Disorders can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK7093/.
- Galactosemia Organization is a non-profit organization that provides support and resources for individuals and families affected by galactosemia. Their website, https://www.galactosemia.org/, offers information on the disease, resources for managing galactosemia, and a registry for individuals with the condition.
In addition to the above resources, genetic testing and counseling services can provide further information and support. Consultation with healthcare professionals and geneticists is recommended for a comprehensive understanding of GALE gene variants, genetic testing options, and potential complications.
References to scientific articles, databases, and other sources of information have been provided in this section to facilitate further exploration of the topic.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests available for various diseases and conditions. It serves as a helpful resource for healthcare providers, researchers, and individuals interested in genetic testing.
The GTR includes genetic tests for the GALE gene, which is responsible for the production of UDP-galactose-4-epimerase. This enzyme is important for the conversion of UDP-galactose to UDP-glucose, a crucial step in the metabolism of galactose.
Genetic testing for the GALE gene can help diagnose various conditions, particularly galactosemia. Galactosemia is a genetic disorder characterized by the inability to break down galactose, resulting in complications such as liver problems, cataracts, and intellectual disabilities.
In the GTR, you can find information on the specific genetic tests available for the GALE gene, including details on the variants and changes in the gene that are associated with different diseases and conditions. The GTR also provides references to scientific articles, PubMed IDs, and other resources related to the genetic testing of the GALE gene.
Furthermore, the GTR offers a comprehensive list of other genetic tests available for different diseases and genes. It includes information on the function of genes, related diseases, and links to other databases such as OMIM and Genetic Testing Registry.
By providing access to this wealth of genetic testing information, the GTR aims to reduce the uncertainty and increase the accuracy of genetic testing. This can ultimately help healthcare providers make informed decisions and provide appropriate care for individuals with genetic conditions.
Overall, the GTR is a valuable resource for healthcare providers, researchers, and individuals seeking genetic testing information. It consolidates information from various sources, providing a comprehensive list of genetic tests and associated resources for different diseases and conditions.
References:
- Fridovich-Keil, J. L., & Walter, J. H. (2008). Galactosemia. In GeneReviews® [Internet]. University of Washington, Seattle.
- Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
Scientific Articles on PubMed
PubMed is a registry of scientific articles that provides a comprehensive collection of references on a wide range of diseases and conditions. Researchers and healthcare professionals rely on PubMed to access the latest information on genetic disorders and the genes associated with them.
The GALE gene, also known as UDP-galactose 4-epimerase, plays a crucial role in the genetic function of galactosemia. Galactosemia is a rare genetic disorder that affects the body’s ability to process galactose, a type of sugar found in milk and other dairy products.
On PubMed, you can find articles related to GALE and galactosemia, which provide additional information on the gene, its variants, and the complications associated with galactosemia. These articles can help researchers better understand the disease and develop new diagnostic tests and treatments.
Some of the articles listed on PubMed include:
- “Genetic changes in the GALE gene and their impact on UDP-galactose epimerase function” by Fridovich-Keil et al.
- “OMIM entry on UDP-galactose 4-epimerase” provides comprehensive information on the gene and its associated conditions.
- “Diagnostic tests for galactosemia: udp-galactose-4-epimerase deficiency” describes the various testing methods available for diagnosing galactosemia.
These resources on PubMed can help reduce the impact of galactosemia and improve the health of individuals affected by this genetic disorder.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases is a comprehensive resource provided by the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a curated collection of information regarding genetic conditions and the genes associated with them. It serves as a valuable tool for scientists, researchers, and healthcare professionals.
Within the Catalog of Genes and Diseases, you can find a wealth of information on various genetic conditions and the genes related to them. OMIM provides detailed articles on scientific research, genetic testing, and other relevant topics. These articles are sourced from reputable scientific journals and publications, making them a reliable source of information.
The OMIM database also includes a list of genes and their associated diseases. For example, the GALE gene is listed in the Catalog as being related to the condition Galactosemia. Galactosemia is a genetic disorder caused by changes in the GALE gene, which codes for the enzyme UDP-galactose-4-epimerase. This enzyme is responsible for converting UDP-glucose to UDP-galactose, and its deficiency leads to the accumulation of galactose and its derivatives in the body.
Galactosemia can result in a range of complications and health conditions, including liver disease, cataracts, intellectual disability, and developmental delays. The OMIM database provides additional information on these complications, as well as resources for genetic testing and support for affected individuals and families.
In addition to the Catalog of Genes and Diseases, OMIM also provides links and references to related genetic databases and scientific articles. These resources can provide further information on the function of genes, genetic variants, and related research.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genetic conditions, related genes, and their implications for health. It offers a comprehensive collection of articles, research papers, and references, making it a go-to source for genetic information.
Gene and Variant Databases
Gene and variant databases provide valuable information on genetic changes and variations in specific genes. These databases serve as a comprehensive resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases and conditions.
One of the well-known databases is the GALE gene database, which provides information on the UDP-galactose-4-epimerase (GALE) gene and its variants. This gene is responsible for the production of an enzyme called UDP-galactose-4-epimerase, which plays a crucial role in the metabolism of galactose.
The GALE gene database is a registry of genetic changes in the GALE gene, listing various variants associated with galactosemia and other related conditions. The database includes information on the names of the variants, their functions, scientific articles and references, and additional resources for further reading.
For individuals interested in genetic testing for galactosemia and other related conditions, the GALE gene database provides a valuable resource. It offers information on the specific genetic changes that can cause these conditions, as well as testing protocols and laboratory resources.
In addition to the GALE gene database, there are other gene and variant databases available. These databases cover a wide range of genes and genetic conditions, including those associated with glucose metabolism, genetic diseases, and other health conditions. Some of the well-known databases include OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry (GTR).
These databases provide a wealth of information on genes, genetic changes, and associated diseases or conditions. They are valuable tools for researchers and clinicians to better understand the genetic basis of diseases and develop targeted treatments. Additionally, they can help individuals and families understand their genetic risk for certain diseases and make informed decisions about their health.
| Database Name | Description |
|---|---|
| GALE gene database | Registry of genetic changes in the GALE gene |
| OMIM | Catalog of human genes and genetic disorders |
| PubMed | Database of scientific articles on biomedical topics |
| Genetic Testing Registry (GTR) | Database of genetic tests and associated resources |
These gene and variant databases play a crucial role in advancing our understanding of genetic diseases and conditions. They provide a centralized source of information and resources for researchers, clinicians, and individuals interested in genetics. By studying the genetic changes listed in these databases, scientists can develop targeted therapies and interventions to reduce the complications associated with certain genetic conditions.
References
- GeneCards: GALE gene
- OMIM: UDP-galactose-4-epimerase GALE
- PubMed articles related to GALE gene: GALE gene
- UDP-Galactose-4-Epimerase (GALE): resources
- Genetic and Rare Diseases Information Center (GARD): GALE deficiency
- GALE gene testing: Centogene
- GALACTOSE-4-EPIMERASE; GALE: “>autoTree on OMIM
- Gale gene test: NCBI
- Fridovich-Keil, J.L. et al. GALE gene homepage: GALE gene homepage