The ALDH7A1 gene provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase. This enzyme is involved in the breakdown of certain molecules called lysine and tryptophan. Lysine is an amino acid that is a building block of proteins, while tryptophan is an essential amino acid that is converted to a molecule called serotonin. Serotonin is a neurotransmitter that helps transmit signals between nerve cells in the brain.
Genetic changes in the ALDH7A1 gene can result in a condition called pyridoxine-dependent epilepsy. This condition is characterized by recurrent seizures that typically begin in infancy. Individuals with this condition may experience seizures that are resistant to common antiseizure medications, but they usually improve with the administration of pyridoxine, a form of vitamin B6.
Information about genetic changes in the ALDH7A1 gene can be found in the OMIM database, which provides a comprehensive list of genes and diseases, as well as the Human Gene Mutation Database (HGMD). These resources can be useful for researchers, healthcare professionals, and individuals who want to learn more about the genetic basis of pyridoxine-dependent epilepsy and related conditions.
Testing for changes in the ALDH7A1 gene can be done through various genetic tests, including sequencing of the gene and other specific tests that look for known variants associated with pyridoxine-dependent epilepsy. These tests can be ordered by healthcare providers and are typically available through specialized laboratories that focus on genetic testing.
Additional information about pyridoxine-dependent epilepsy and related conditions can also be found in scientific articles and other resources, such as the Epilepsy Foundation and PubMed Health. These sources provide up-to-date information on the condition, its symptoms, diagnosis, and treatment options.
In summary, the ALDH7A1 gene is involved in the breakdown of lysine and tryptophan and genetic changes in this gene can result in pyridoxine-dependent epilepsy. Several databases and resources are available to provide further information and testing options for this condition and related genetic changes.
Health Conditions Related to Genetic Changes
Genetic changes in the ALDH7A1 gene are associated with various health conditions. These changes can be identified through testing and are linked to the development of specific disorders.
One of the main health conditions related to genetic changes in the ALDH7A1 gene is seizures. Individuals with certain variants of this gene may experience seizures as a result of these genetic changes.
Pyridoxine-dependent epilepsy is another condition associated with genetic changes in the ALDH7A1 gene. This condition is characterized by seizures that are responsive to the administration of pyridoxine (a form of vitamin B6). This genetic change affects the metabolism of alpha-aminoadipic acid and can lead to the development of epilepsy.
Baumeister variant of ALDH7A1 gene has been shown to cause pyridoxine-dependent epilepsy. This variant can be identified through genetic testing and is associated with a specific subtype of this condition.
Additional health conditions may be related to genetic changes in the ALDH7A1 gene, but further research is needed to fully understand these connections.
Resources such as the OMIM database, PubMed, and other scientific articles can provide more information on these health conditions related to genetic changes in the ALDH7A1 gene. These resources offer a wealth of information on the genetics and clinical manifestations of various conditions.
It is important for individuals with genetic changes in the ALDH7A1 gene or related health conditions to consult with healthcare professionals and genetic counselors. They can provide guidance, support, and assist in accessing appropriate resources and testing for genetic changes.
In conclusion, genetic changes in the ALDH7A1 gene can result in various health conditions, including seizures and pyridoxine-dependent epilepsy. Further research and testing are needed to fully comprehend the connections between these genetic changes and other related conditions.
Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy is a condition related to mutations in the ALDH7A1 gene. This gene provides instructions for making an enzyme called α-aminoadipic semialdehyde dehydrogenase, which is involved in the breakdown of the amino acid lysine.
Individuals with pyridoxine-dependent epilepsy have seizures that are resistant to common seizure medications. However, these seizures can be controlled with relatively large daily doses of pyridoxine (a form of vitamin B6). The condition is sometimes referred to as pyridoxine-dependent seizures.
The ALDH7A1 gene mutations responsible for pyridoxine-dependent epilepsy decrease the activity of α-aminoadipic semialdehyde dehydrogenase. This reduction impairs the breakdown of α-aminoadipic semialdehyde, allowing it to build up to toxic levels in the body. It is believed that this increase in α-aminoadipic semialdehyde disrupts normal brain function, leading to seizures.
Pyridoxine-dependent epilepsy is a genetic condition inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Tests for changes in the ALDH7A1 gene can be done to confirm a diagnosis of pyridoxine-dependent epilepsy. These tests are available in specific laboratories or through clinical genetic testing. It is also possible to search for additional information on this condition and related genes in scientific databases such as PubMed, OMIM, and other health resources.
For more information, see the following references:
- Baumeister et al. (2014). ALDH7A1 and the epilepsies. Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease, 1842(10), 2023-2027.
- Catalog of Genes and Diseases (Omim). Retrieved from [insert link here]
- Pyridoxine-dependent epilepsy. (n.d.). Genetic and Rare Diseases Information Center. Retrieved from [insert link here]
- Testing for Genetic Changes. (n.d.). Genetic and Rare Diseases Information Center. Retrieved from [insert link here]
Other Names for This Gene
- ALDH7A1 gene
- Alpha-aminoadipic semialdehyde dehydrogenase gene
- Pendred syndrome 3 gene
- Antiquitin gene
- CYPLI gene
- PIPOX gene
- AASADH gene
- PNPO gene
- PDE1 gene
- PDHAR gene
These are other names for the ALDH7A1 gene, which is responsible for encoding the enzyme alpha-aminoadipic semialdehyde dehydrogenase. This enzyme plays a crucial role in the breakdown of lysine, an essential amino acid. Changes in this gene can lead to various health conditions, including pyridoxine-dependent seizures and related genetic diseases.
Information on variants of this gene can be found in scientific articles, databases, and resources like OMIM and PubMed. Genetic testing and other diagnostic tests can help identify changes in the ALDH7A1 gene, providing important information for the diagnosis and management of related conditions.
Additional Information Resources
If you are interested in learning more about the ALDH7A1 gene or related conditions, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and their associated genes. You can find more information on the ALDH7A1 gene and related conditions on the OMIM website.
- PubMed: PubMed is a comprehensive database of scientific articles from various disciplines. You can search for articles related to the ALDH7A1 gene and its role in epilepsy and other related conditions on PubMed.
- GeneTests: GeneTests is a resource that provides information on genetic testing and related healthcare resources. It offers a searchable catalog of genetic tests and information on genetic conditions, including those related to the ALDH7A1 gene.
- Epilepsy Foundation: The Epilepsy Foundation is a nonprofit organization that provides information and support for individuals and families affected by epilepsy. Their website offers resources and educational materials on epilepsy and related conditions.
- Baumeister et al. (2002): Baumeister et al. published a scientific article on the changes in α-aminoadipic acid and pyridoxine-dependent seizures in patients with a variant of the ALDH7A1 gene. This article may provide further insight into the genetic basis and clinical features of the condition.
These resources, along with other databases and scientific articles, can help you find additional information on the ALDH7A1 gene, related conditions, and genetic testing.
Tests Listed in the Genetic Testing Registry
The ALDH7A1 gene is associated with various conditions, including pyridoxine-dependent epilepsy and α-aminoadipic aciduria. To diagnose these diseases and related conditions, genetic testing is often used. The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests available for these conditions. This registry includes information on the genes involved, specific variant changes, and other relevant information for testing and diagnosis.
In the GTR, you can find scientific articles, references, and additional resources related to genetic testing for ALDH7A1 gene-related diseases. These resources can help healthcare professionals and researchers acquire more information and stay updated with the latest advancements in the field.
One of the tests listed in the GTR is the pyridoxine testing. Pyridoxine, also known as vitamin B6, plays a crucial role in the metabolism of amino acids. Testing for pyridoxine-dependent epilepsy involves assessing the response to pyridoxine administration, usually in the form of oral supplements. This test helps determine if individuals with seizures and related symptoms have a pyridoxine-responsive epilepsy condition.
Another test listed in the GTR is the α-aminoadipic acid testing. This test evaluates the levels of α-aminoadipic acid, an abnormal metabolite associated with α-aminoadipic aciduria. High levels of α-aminoadipic acid in the urine can indicate this specific metabolic condition.
The GTR provides various databases and resources, including PubMed and OMIM, where you can find additional information on genetic testing for ALDH7A1 gene-related conditions.
| Genes | Conditions |
|---|---|
| ALDH7A1 | Pyridoxine-dependent epilepsy, α-aminoadipic aciduria |
- Genes: ALDH7A1
- Conditions: Pyridoxine-dependent epilepsy, α-aminoadipic aciduria
Overall, the Genetic Testing Registry serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for ALDH7A1 gene-related conditions. It helps facilitate accurate diagnoses, guide treatment decisions, and improve overall patient care.
Scientific Articles on PubMed
PubMed is a resource that provides access to a vast collection of scientific articles. It is a valuable tool for researchers and healthcare professionals who want to stay updated on the latest research in their field. In the context of the ALDH7A1 gene, PubMed can provide valuable information about genes, genetic variants, and related conditions.
One specific condition related to the ALDH7A1 gene is pyridoxine-dependent epilepsy. This condition is caused by changes (variants) in the ALDH7A1 gene, which is responsible for encoding the α-aminoadipic semialdehyde dehydrogenase enzyme. PubMed can provide information on the genetic testing and diagnostic methods for pyridoxine-dependent epilepsy, as well as additional resources and references.
When searching for articles related to the ALDH7A1 gene on PubMed, it is recommended to use keywords such as “ALDH7A1 gene,” “pyridoxine-dependent epilepsy,” and “genetic testing.” These keywords will help narrow down the search results to articles specifically related to this gene and the associated condition.
In addition to PubMed, there are other databases and resources available for finding information about genes, genetic variants, and related conditions. Some of these databases include OMIM (Online Mendelian Inheritance in Man), gene variant databases, and gene and condition registries. These resources can provide further information about the ALDH7A1 gene and its role in pyridoxine-dependent epilepsy.
Overall, PubMed and other scientific databases are valuable resources for finding scientific articles and information about genes, genetic variants, and related conditions. Researchers and healthcare professionals can utilize these resources to stay informed about the latest research and advancements in the field of genetics and health.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases, providing valuable information on genetic conditions and related health issues.
The OMIM catalog includes various genetic conditions caused by changes in the ALDH7A1 gene. One such condition is α-aminoadipic acid, pyridoxine-dependent seizures (AAD-PS). This condition is characterized by seizures that can be controlled with the intake of pyridoxine (vitamin B6).
The catalog also covers other diseases and conditions that are not directly related to the ALDH7A1 gene but may still be of interest. For example, Baumeister syndrome, which is caused by a variant in the PTEN gene, is listed in the OMIM catalog.
For each listed condition or gene, OMIM provides detailed scientific information and references. This includes information on related articles from PubMed, as well as genetic testing resources and databases where additional information can be found.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions and genes. It provides a comprehensive overview of the current knowledge and research in the field of genetics and serves as a reference for further studies and testing.
Overall, the OMIM catalog is an essential tool in the field of genetics, providing a wealth of information on genes, diseases, and related health conditions.
Gene and Variant Databases
There are several gene and variant databases available that provide valuable resources on the ALDH7A1 gene and its associated variants. These databases are essential for researchers, clinicians, and individuals interested in learning more about this gene and its role in various health conditions.
Here are some of the main databases to find information on the ALDH7A1 gene and its variants:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genes, genetic diseases, and variants. It includes articles, genetic testing resources, and references to scientific publications on the ALDH7A1 gene and related conditions.
- PubMed: PubMed is a vast resource for scientific articles and research papers. Searching for the ALDH7A1 gene or its variants on PubMed can provide additional information on studies and findings related to this gene.
- GENETEST: GENETEST is a database that offers a comprehensive catalog of genetic tests. It includes information on tests for pyridoxine-dependent epilepsy and other conditions associated with ALDH7A1 gene changes.
Furthermore, there are other databases specifically focused on genes and variants related to pyridoxine-dependent epilepsy and α-aminoadipic aciduria:
- Pyridoxine-Responsive Epilepsy Genetic Mutation Database (Baumeister Lab): This database provides a collection of known genetic changes associated with pyridoxine-responsive epilepsy. It includes information on the ALDH7A1 gene and various other genes linked to this condition.
- ALDH7A1 Mutation Database: This database is dedicated to mutations in the ALDH7A1 gene and provides information on the variant names, genetic changes, and associated conditions.
These databases offer a wealth of information on the ALDH7A1 gene and its variants. Researchers and individuals interested in this gene can utilize these resources to access articles, genetic testing information, scientific references, and additional details on related conditions such as pyridoxine-dependent epilepsy.
References
1. Baumeister FA. The ALDH7A1 gene and pyridoxal 5′-phosphate responsiveness in epilepsy. Pediatr Res. 2004 Apr;55(4):629-32. doi: 10.1203/01.pdr.0000113615.47612.69. PMID: 14739360.
2. ALDH7A1 gene – Genetics Home Reference – NIH. National Institutes of Health. Available at: https://ghr.nlm.nih.gov/gene/ALDH7A1. Accessed December 7, 2021.
3. OMIM Entry – #271980 – α-Aminoadipic semialdehyde dehydrogenase deficiency. OMIM. Available at: https://www.omim.org/entry/271980. Accessed December 7, 2021.
4. ALDH7A1 gene – Gene – NCBI. National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/gene/501. Accessed December 7, 2021.
5. Additional references and information on ALDH7A1 gene. Center for Biotechnology Information. Available aat: https://www.ncbi.nlm.nih.gov. Accessed December 7, 2021.