The ALDH5A1 gene is responsible for producing an enzyme called succinic semialdehyde dehydrogenase. This enzyme helps convert a molecule called succinic semialdehyde into another molecule called succinic acid. The ALDH5A1 gene is listed in the OMIM database of genetic conditions and is associated with a disorder called succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase deficiency is a rare genetic condition that affects the nervous system. Individuals with this deficiency have a mutation in the ALDH5A1 gene that leads to a reduced or absent production of the enzyme. Without enough of this enzyme, succinic semialdehyde can build up in the body, leading to a variety of symptoms and health problems.

Testing for ALDH5A1 gene deficiency can be done through genetic testing. This involves analyzing a person’s DNA to look for changes or variants in the ALDH5A1 gene. Additional tests may also be done to measure the level of succinic semialdehyde in the body, as well as to evaluate the function of the enzyme.

For more information on the ALDH5A1 gene, its associated deficiency, and related diseases, the OMIM database, PubMed, and other scientific resources can provide a wealth of articles, references, and genetic information. The ALDH5A1 gene is also included in genetic databases and registries that collect data on genes and diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the ALDH5A1 gene have been implicated in several health conditions. This gene provides instructions for making an enzyme called succinic semialdehyde dehydrogenase. Changes in this gene can lead to a deficiency of the enzyme, known as succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase deficiency is a rare genetic disorder that affects the breakdown of a neurotransmitter called gamma-aminobutyric acid (GABA) in the brain. The deficiency leads to an accumulation of GABA and its derivative, succinic semialdehyde, which can cause neurological symptoms.

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Individuals with succinic semialdehyde dehydrogenase deficiency may experience a range of symptoms, including developmental delay, intellectual disability, seizures, speech problems, and behavioral issues.

To diagnose succinic semialdehyde dehydrogenase deficiency, genetic testing can be performed to identify changes in the ALDH5A1 gene. There are several commercial genetic testing companies that offer testing for this gene and related conditions.

Information about genetic changes in the ALDH5A1 gene can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders and genes, including succinic semialdehyde dehydrogenase deficiency. PubMed, a database of scientific articles, can also be searched for research articles and references related to this gene and the associated health conditions.

In addition to genetic testing, other diagnostic tests may be used to evaluate individuals with suspected succinic semialdehyde dehydrogenase deficiency. These may include biochemical tests to measure GABA levels, neuroimaging studies to assess brain structure and function, and neurophysiological tests to evaluate electrical activity in the brain.

Genetic changes in other genes related to the GABA pathway can also cause similar health conditions. These genes include ALDH18A1, GABRB3, GABRD, GABRG2, and SLC6A1. Testing for changes in these genes may be considered in individuals with suspected succinic semialdehyde dehydrogenase deficiency.

In summary, genetic changes in the ALDH5A1 gene can result in succinic semialdehyde dehydrogenase deficiency and related health conditions. Genetic testing and additional diagnostic tests can help identify these changes and provide information for diagnosis and management of affected individuals.

Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency is a genetic deficiency of the enzyme succinic semialdehyde dehydrogenase, which is encoded by the ALDH5A1 gene. This deficiency is also known as 4-hydroxybutyric aciduria, γ-hydroxybutyric aciduria, and gamma-aminobutyric acid transaminase deficiency.

The ALDH5A1 gene provides instructions for making the enzyme succinic semialdehyde dehydrogenase, which is involved in the breakdown of gamma-aminobutyric acid (GABA), a neurotransmitter that inhibits the activity of nerve cells in the brain. Mutations in the ALDH5A1 gene result in reduced or absent enzyme activity, leading to the buildup of succinic semialdehyde, which is converted to gamma-hydroxybutyric acid (GHB) in the body. The accumulation of GHB and its byproducts can disrupt normal brain function and result in the signs and symptoms of succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase deficiency is a rare disorder, with an estimated incidence of 1 in 100,000 to 200,000 individuals. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated ALDH5A1 gene (one from each parent) to develop the disorder.

Diagnosis of succinic semialdehyde dehydrogenase deficiency can be confirmed through genetic testing, which can identify changes (variants) in the ALDH5A1 gene. This testing is typically offered through specialized laboratories or genetic testing companies. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other resources provide information on the genetic changes associated with succinic semialdehyde dehydrogenase deficiency and related conditions.

In addition to genetic testing, other laboratory tests can be used to measure the levels of succinic semialdehyde, GHB, and related compounds in the urine or blood. These tests can help confirm a diagnosis and monitor treatment effectiveness.

The Succinic Semialdehyde Dehydrogenase Deficiency Registry, established in 1997, collects clinical and genetic information from individuals with succinic semialdehyde dehydrogenase deficiency. The registry provides a resource for researchers and healthcare professionals to access information on the natural history, genetic mutations, and treatment outcomes of individuals with this disorder.

Scientific articles related to succinic semialdehyde dehydrogenase deficiency can be found in journals such as the Journal of Inherited Metabolic Disease, Molecular Genetics and Metabolism, and the American Journal of Medical Genetics. The OMIM database, PubMed, and other scientific databases can be searched for references to these articles and additional information on succinic semialdehyde dehydrogenase deficiency.

Other names for succinic semialdehyde dehydrogenase deficiency include SSADH deficiency, SSADHD, 4-hydroxybutyric acidemia, 4-HBA, GABA-transaminase deficiency, and gamma-hydroxybutyric acidemia.

For more information on succinic semialdehyde dehydrogenase deficiency, genetic testing, and related conditions, individuals and healthcare providers can consult the National Institutes of Health’s Genetics Home Reference, the Genetic and Rare Diseases Information Center, or contact a genetics professional.

Other Names for This Gene

• ALDH5A1 gene
• ALDH5A1
• ASLH
• Δ4-3-oxoacid CoA transferase
• antiquitin
• delta-4-3-ketosteroid 5β-reductase
• SUCLA2-binding protein
• succinic semialdehyde dehydrogenase
• SUCOAS

The ALDH5A1 gene is also known by several other names, including ASLH, antiquitin, and SUCOAS. It is an essential gene that encodes an enzyme called succinic semialdehyde dehydrogenase, which is responsible for catalyzing the conversion of succinic semialdehyde to succinic acid. Deficiencies in this gene can lead to various genetic conditions, such as succinic semialdehyde dehydrogenase deficiency.

Information about this gene can be found in various scientific resources, including the OMIM and PubMed databases. These resources provide additional information about the gene, including its role in various diseases and conditions. Changes in the ALDH5A1 gene can be identified through genetic testing, which can help in the diagnosis of related conditions.

References:

1. OMIM: ALDH5A1 gene
2. PubMed: ALDH5A1 gene
3. Catalog of Genes and Diseases
4. Health-related articles

Additional Information Resources

The ALDH5A1 gene, also known as succinic semialdehyde dehydrogenase gene, is responsible for producing the enzyme succinic semialdehyde dehydrogenase. Mutations or changes in this gene can lead to succinic semialdehyde dehydrogenase deficiency, a genetic condition associated with various neurological and developmental abnormalities.

If you are interested in learning more about the ALDH5A1 gene and related genetic diseases, the following resources can provide additional information:

1. OMIM (Online Mendelian Inheritance in Man): This comprehensive catalog of human genes and genetic conditions provides detailed information about the ALDH5A1 gene and associated disorders. You can browse through the database to access scientific articles, references, and other relevant information.
2. PubMed: This database of scientific articles is a valuable resource for finding research studies and papers related to the ALDH5A1 gene and its functions. You can search for specific keywords or browse through relevant articles to gain more insights into the genetic changes and signals associated with this gene.
3. Genetic testing: Various genetic testing laboratories offer tests specifically designed to detect mutations or changes in the ALDH5A1 gene. These tests can provide valuable information about an individual’s genetic makeup and help diagnose succinic semialdehyde dehydrogenase deficiency. Talk to a healthcare professional or genetic counselor to learn more about the available tests and their implications.
4. Registry for Research on Genetic Diseases: This registry, maintained by the National Institutes of Health, provides a platform for researchers, clinicians, and individuals with genetic conditions to share and access information. You can find additional resources, references, and community support related to succinic semialdehyde dehydrogenase deficiency and other genetic diseases.

These resources can serve as valuable references for obtaining additional information, scientific articles, and support related to the ALDH5A1 gene and its association with genetic diseases. It is important to consult with healthcare professionals and genetic experts for proper diagnosis, testing, and management of genetic conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and understanding genetic conditions. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and the genes associated with them. In the context of the ALDH5A1 gene, several tests related to succinic semialdehyde dehydrogenase deficiency are listed in the GTR.

The tests listed include:

• Succinic Semialdehyde Dehydrogenase (ALDH5A1) Deficiency – Analysis of the ALDH5A1 gene to identify genetic changes that may be associated with the deficiency condition.
• Succinic Semialdehyde Dehydrogenase Deficiency – Analysis of the ALDH5A1 gene to detect genetic variants causing the deficiency.
• Succinic Semialdehyde Dehydrogenase Deficiency – Genetic testing to diagnose the deficiency based on the ALDH5A1 gene.

These tests provide important information regarding the genetic basis of succinic semialdehyde dehydrogenase deficiency. By analyzing the ALDH5A1 gene, scientists and healthcare professionals can identify genetic changes that may contribute to the development of this condition.

Genetic testing resources related to ALDH5A1 deficiency can be accessed through the GTR. These resources include scientific articles, databases, and references to additional tests listed in the GTR and in other genetic testing registries. The GTR also provides links to other information sources such as OMIM, PubMed, and other databases that contain valuable information on genes, genetic conditions, and related diseases.

It is essential to utilize these testing resources to gain a comprehensive understanding of genetic conditions, including succinic semialdehyde dehydrogenase deficiency. By accessing the GTR and related databases, healthcare professionals and researchers can stay updated on the latest advancements in genetic testing and the associated genes, enabling accurate diagnosis and effective management of genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ALDH5A1 gene and the genetic deficiency of aldehyde dehydrogenase. Below is a list of key articles and resources that provide important information on this topic:

• ALDH5A1 Gene: The ALDH5A1 gene encodes the enzyme aldehyde dehydrogenase, which is involved in the metabolism of various aldehydes. Mutations in this gene can lead to a deficiency of the enzyme and cause related diseases.
• OMIM Database: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The ALDH5A1 gene has an entry in the OMIM database that provides detailed information about its function and associated diseases.
• Genetic Testing: Genetic testing can be done to detect changes in the ALDH5A1 gene and confirm a genetic deficiency of aldehyde dehydrogenase. Various tests and laboratories offer this type of testing.
• ALDH5A1 Deficiency Registry: The ALDH5A1 Deficiency Registry is a centralized database that collects information about individuals diagnosed with ALDH5A1 deficiency. This registry helps to improve understanding of the condition and provides resources for affected individuals and their families.
• Semialdehyde Dehydrogenase: Semialdehyde dehydrogenase is an enzyme that plays a role in the metabolism of succinic and other semialdehydes. Changes in the ALDH5A1 gene can affect the activity of this enzyme and lead to metabolic disorders.
• PubMed Articles: PubMed contains a wide range of scientific articles discussing the ALDH5A1 gene and its related conditions. These articles provide valuable insights into the genetic basis, clinical features, and management of ALDH5A1 deficiency.

In summary, PubMed is a useful platform for accessing scientific articles that cover a wide range of topics related to the ALDH5A1 gene and genetic deficiency of aldehyde dehydrogenase. Researchers and healthcare professionals can utilize the information and resources available on PubMed to enhance their understanding and management of this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogs genes and diseases related to genetic conditions. It provides valuable scientific information on various genetic disorders and aids in understanding the underlying genetic causes.

The ALDH5A1 gene is featured in the OMIM catalog, as it is associated with a specific genetic disorder called Succinic semialdehyde dehydrogenase deficiency. This deficiency affects the enzyme encoded by the ALDH5A1 gene, leading to the accumulation of succinic semialdehyde and related compounds in the body.

The OMIM catalog provides in-depth information on the ALDH5A1 gene and its associated deficiency, including details on the genetic changes or variants that can cause the condition. It also lists related articles and references from scientific literature, such as PubMed, to further explore the topic.

In addition to the ALDH5A1 gene, the OMIM catalog covers a wide range of other genes and diseases, offering a comprehensive repository of genetic information. Users can find information on various genetic conditions, discover related genes, and explore additional resources and testing options.

OMIM serves as a valuable tool for researchers, clinicians, and individuals interested in genetic health. It provides a centralized and reliable source for accessing genetic information, offering a gateway to explore genes, diseases, and their associated features in an organized manner.

Overall, the Catalog of Genes and Diseases from OMIM is an essential resource that facilitates the understanding and study of genetic conditions. It offers a wealth of scientific information, including genetic changes, disease phenotypes, and related resources, making it invaluable for researchers and healthcare professionals.

Gene and Variant Databases

There are several databases that provide catalogs and resources related to the ALDH5A1 gene and its variants. These databases serve as valuable tools for researchers and healthcare professionals to access information about the gene and its associated conditions.

One of the main databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genes and genetic disorders. Users can search for the ALDH5A1 gene and find information on its different variants and associated conditions.

The Genetic Testing Registry (GTR) is another important resource for information on genetic testing. It provides information on available genetic tests and laboratories that offer testing for the ALDH5A1 gene deficiency. The GTR also provides additional information about the gene and its related conditions.

In addition to these databases, there are scientific articles and publications available on PubMed that provide insights into the ALDH5A1 gene and its variants. These articles can provide in-depth information on the genetic changes associated with the gene and the tests available for its detection.

Other genetic databases, such as GeneCards and Ensembl, also provide information on the ALDH5A1 gene. These databases include details about the gene location, aliases, and related genes, among other valuable information.

For individuals seeking information on the ALDH5A1 gene and its variants for personal health or genetic counseling purposes, these databases can be valuable resources. They provide information on the genetic changes associated with the gene and the diseases or conditions it may cause.

It is important to note that while these databases provide valuable information, genetic testing and interpretation of results should be performed by qualified healthcare professionals. Interpretation of genetic changes should be done in the context of the individual’s personal and family medical history.

References to these databases and related articles can be found in the resources listed below:

• Online Mendelian Inheritance in Man (OMIM) database
• Genetic Testing Registry (GTR)
• PubMed
• GeneCards
• Ensembl

These databases and resources provide a wealth of information on the ALDH5A1 gene and its variants. They serve as important tools for researchers, healthcare professionals, and individuals seeking information on the gene and its associated conditions.

References

• Conditions: The information in this article refers to the genetic condition of succinic semialdehyde dehydrogenase deficiency.
• Tests, genetic information, and catalogs: To find more information on genetic testing for this condition, the Online Mendelian Inheritance in Man (OMIM) database can be consulted. Additionally, the Genetic Testing Registry (GTR) provides a list of labs offering testing for ALDH5A1 gene deficiency.
• Articles and databases: PubMed is a scientific database that contains articles on topics related to succinic semialdehyde dehydrogenase deficiency. Other related databases and resources may also provide additional information.
• Genes and gene names: The ALDH5A1 gene is associated with the deficiency of succinic semialdehyde dehydrogenase. Other gene names may also be used to refer to this gene.
• Enzyme deficiency and changes: Succinic semialdehyde dehydrogenase deficiency is characterized by a deficiency in the enzyme responsible for breaking down succinic semialdehyde. This deficiency leads to various health issues and symptoms.
• Testing: Testing for succinic semialdehyde dehydrogenase deficiency may involve genetic testing, as well as other tests to assess enzyme activity, metabolites, and signals related to this condition.