The ASL gene, also known as argininosuccinate lyase, is responsible for producing the enzyme argininosuccinate lyase. This enzyme is involved in the urea cycle, a metabolic pathway that converts toxic ammonia into urea. Changes in the ASL gene can lead to a deficiency in argininosuccinate lyase, resulting in a condition known as argininosuccinic aciduria. This genetic disorder affects the body’s ability to break down argininosuccinic acid, leading to a build-up of this substance in the blood and urine.
Individuals with argininosuccinic aciduria can experience a range of health problems, including neurological symptoms, developmental delays, liver damage, and metabolic crises. Early diagnosis through genetic testing is crucial for appropriate management and treatment of this condition. Genetic testing can identify changes in the ASL gene that cause argininosuccinic aciduria and help guide medical interventions and lifestyle modifications.
The ASL gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and Genetests. These sources provide information on the gene, its variant names, related diseases, and scientific articles. PubMed is a widely used database that catalogs scientific articles and references related to the ASL gene.
This article aims to provide an overview of the ASL gene, its associated conditions, and the resources available for further information and testing. It will also discuss the importance of genetic testing in identifying changes in the ASL gene and how this information can be used to inform medical decisions and treatment plans.
Health Conditions Related to Genetic Changes
There are several health conditions that are related to genetic changes in the ASL gene. These changes can lead to the development of various disorders and diseases. Here are some of the common health conditions associated with genetic changes in the ASL gene.
- Argininosuccinic Aciduria: This is a rare genetic disorder that is caused by changes in the ASL gene. It is characterized by a deficiency of the enzyme argininosuccinate lyase, which leads to the buildup of argininosuccinic acid in the body.
- Urea Cycle Disorders: Urea cycle disorders, including argininosuccinic aciduria, are a group of genetic disorders that affect the way the body processes ammonia. These disorders can lead to high levels of ammonia in the blood, resulting in symptoms such as vomiting, lethargy, and seizures.
Testing for genetic changes in the ASL gene can be done through various methods, such as sequencing the gene or analyzing specific variants. Genetic testing can provide important information for diagnosis, treatment, and management of these health conditions.
Additional resources and information on genetic changes in the ASL gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide articles, references, and related scientific information written for health professionals and researchers.
It is important to note that genetic changes in the ASL gene are not the only cause of these health conditions. There may be other genes or factors involved in the development of these diseases.
Argininosuccinic aciduria
Argininosuccinic aciduria is an amino acid disorder caused by changes in the ASL gene. This gene provides instructions for making an enzyme called argininosuccinate lyase. Mutations in the ASL gene can replace the normal enzyme with a defective or nonfunctional one, leading to the accumulation of argininosuccinic acid in the body.
PubMed articles on this gene and related conditions can be found in scientific databases. Additional information can be found in the Online Mendelian Inheritance in Man (OMIM) database.
Argininosuccinic aciduria is also known by other names, such as argininosuccinic acid lyase deficiency or ASL deficiency. Genetic testing for this gene can be done to confirm a diagnosis.
The Erez Gene Testing/Diagnostic Laboratories at the Baylor College of Medicine offers testing for genetic conditions including argininosuccinic aciduria.
For more information about argininosuccinic aciduria, refer to the resources listed in this article. References to specific studies and databases can provide additional information.
- ASL gene: Provides instructions for making the argininosuccinate lyase enzyme.
- Argininosuccinic aciduria: A genetic disorder caused by mutations in the ASL gene.
- Argininosuccinic acid: Accumulates in the body due to the deficiency of argininosuccinate lyase.
- OMIM: Online Mendelian Inheritance in Man database.
- ASL deficiency: Another name for argininosuccinic aciduria.
- PubMed articles: Research articles related to the ASL gene and argininosuccinic aciduria.
- Genetic testing: Testing for mutations in the ASL gene to confirm a diagnosis.
- Health databases: Other databases that provide information on genetic disorders.
- Erez Gene Testing/Diagnostic Laboratories: Offers testing for genetic conditions, including argininosuccinic aciduria.
| Amino Acid Disorder | Gene | Variant |
|---|---|---|
| Argininosuccinic Aciduria | ASL | Changes in the ASL gene |
Other Names for This Gene
The ASL gene is also known by other names, including:
- Argininosuccinate lyase
- Argininosuccinic aciduria
- Argininosuccinic acid lyase
- ASLD
- ASLase
- Arginine succinyltransferase
- Argininosuccinate replacement therapy
- Argininosuccinic acid deficiency
These alternate names for the ASL gene are commonly used in scientific research articles, genetic databases, and health resources. They provide additional information on the gene’s function and its role in diseases such as argininosuccinic aciduria.
For more information on the ASL gene and related conditions, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders.
- PubMed: A database of scientific articles written on various topics, including genetics and genomics.
- The ASL gene testing registry: A database of genetic tests for changes (variants) in the ASL gene.
- The ASL gene variant catalog: A catalog of known variants in the ASL gene.
These resources can help make genetic testing and research on ASL gene-related conditions more accessible and provide up-to-date information on the gene and associated diseases.
Additional Information Resources
In addition to this article, there are various resources available for further information on the ASL gene and related conditions:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ASL gene, argininosuccinic aciduria, and other related conditions. OMIM can be accessed at https://www.omim.org.
- PubMed: PubMed is a database of scientific articles on various topics, including genetics and genetic diseases. Searching for terms like “ASL gene” or “argininosuccinic aciduria” on PubMed can yield relevant research papers and studies.
- Genetic Testing Registry (GTR): GTR is a central repository for genetic tests and their related information. The ASL gene and tests for argininosuccinic aciduria may be listed in the GTR database. More information can be found at https://www.ncbi.nlm.nih.gov/gtr/.
- Genetics Home Reference: Genetics Home Reference is a health information website that provides resources on genetic conditions for the general public. It offers information on the ASL gene, argininosuccinic aciduria, and common diseases related to amino acid deficiencies. Visit https://ghr.nlm.nih.gov for more details.
- ErezGene: ErezGene is a database that compiles information on genes and their variations. It provides information on the ASL gene, including changes and variants associated with argininosuccinic aciduria. Access ErezGene at https://ereznet.org.
These resources, along with the references cited in scientific articles and other databases, can make it easier to gather comprehensive information on the ASL gene, argininosuccinic aciduria, and related conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing is an important tool in diagnosing and understanding various genetic conditions. The Genetic Testing Registry (GTR) is a comprehensive online resource that catalogs genetic tests and their associated information. In the context of the ASL gene, which is related to argininosuccinate lyase deficiency (ASLD), the GTR provides valuable insights into the available tests and additional resources.
The GTR includes tests for various genes that are important in amino acid metabolism, including the ASL gene. These tests are designed to identify changes or variants in the ASL gene that may lead to argininosuccinic aciduria, a condition characterized by the absence or deficiency of the argininosuccinate lyase enzyme.
The tests listed in the GTR can help healthcare providers diagnose and manage argininosuccinic aciduria and other related conditions. They provide information on the specific gene variants tested, the methodologies used, and the laboratories or institutions offering the tests.
Using the GTR, healthcare providers can access a wealth of scientific resources and references related to genetic testing for ASL and other genes. This allows them to stay informed about the latest advancements in the field and make well-informed decisions regarding patient care.
Overall, the GTR serves as a valuable tool for healthcare professionals and researchers working in the field of genetics. By providing a centralized repository of information on genetic tests, the GTR helps bridge the gap between scientific knowledge and the practical application of genetic testing in various diseases and conditions.
References:
- National Institutes of Health (NIH) – Genetic Testing Registry (GTR)
- Online Mendelian Inheritance in Man (OMIM)
- PubMed – a database of articles on life sciences and biomedical topics
Scientific Articles on PubMed
PubMed is a database that provides access to a large collection of scientific articles on various health-related topics, including genetic diseases and conditions. Many articles on the ASL gene and argininosuccinic aciduria can be found in PubMed, which is a valuable resource for researchers and healthcare professionals.
ASL gene, also known as argininosuccinate lyase gene, is responsible for producing the argininosuccinate lyase enzyme. Mutations in this gene can lead to a deficiency of the enzyme, resulting in argininosuccinic aciduria, a rare genetic disorder.
Argininosuccinic aciduria is a metabolic disorder characterized by the accumulation of argininosuccinic acid in the body. This build-up can cause significant health problems and can lead to symptoms such as intellectual disability, liver disease, and neurological issues.
PubMed provides access to scientific articles that discuss the ASL gene, argininosuccinic aciduria, and related conditions. These articles are written by researchers and experts in the field, providing valuable information about the genetic changes that can cause these diseases.
Scientists and healthcare professionals can access PubMed to find articles on specific topics related to the ASL gene and argininosuccinic aciduria. The database allows users to search for articles using keywords, author names, or other search criteria to make it easier to find relevant information.
In addition to scientific articles, PubMed also lists references to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry. These resources provide additional information about the ASL gene, related genes, and genetic testing options available.
Genetic testing can be used to diagnose argininosuccinic aciduria and other genetic conditions. These tests analyze a person’s DNA to look for changes or variants in specific genes, including the ASL gene. By identifying these changes, healthcare professionals can make a more accurate diagnosis and provide appropriate treatment and management recommendations.
PubMed is a valuable tool for accessing scientific articles and information about the ASL gene, argininosuccinic aciduria, and related conditions. Researchers and healthcare professionals can use this resource to stay updated on the latest advancements in the field and to find evidence-based information to support their work.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information on the relationships between genes and genetic diseases. It catalogs a wide range of genetic disorders and their associated genes for easy access to healthcare professionals, researchers, and individuals interested in human genetics.
The OMIM database contains detailed information on the genetic basis of various health conditions. It provides scientific names and references for each gene and variant, making it a valuable resource for genetic testing, research, and clinical diagnosis.
The catalog includes a wide range of genes, including the ASL gene. The ASL gene is associated with Argininosuccinic Aciduria, a rare genetic disorder characterized by a deficiency of the enzyme argininosuccinate lyase. This enzyme is responsible for the breakdown of argininosuccinate, a key component in the urea cycle. Deficiency in the ASL gene can lead to the accumulation of argininosuccinate, leading to various symptoms and health problems.
In addition to the ASL gene, the catalog contains information on many other genes related to various genetic diseases. It provides detailed descriptions of these genes, their functions, and their roles in specific health conditions. The catalog also lists common genetic variants associated with each gene and provides references to relevant scientific articles and resources.
Healthcare professionals can use the OMIM catalog to make well-informed decisions regarding genetic testing, diagnosis, and treatment options for patients with suspected genetic disorders. Researchers can utilize the extensive information available in the catalog to conduct further investigations and contribute to the understanding of various genetic conditions.
The OMIM catalog is regularly updated to include new genes, genetic variants, and associated diseases. It serves as a central registry for genes and genetic diseases, providing a reliable source of information for healthcare professionals and researchers in the field.
In conclusion, the OMIM catalog is a valuable resource for understanding the genetic basis of various health conditions. It provides comprehensive information on genes, genetic variants, and associated diseases, making it an essential tool for genetic testing, research, and clinical practice.
Gene and Variant Databases
Gene and variant databases are valuable resources for gathering information on genes and genetic changes associated with various conditions. These databases provide a comprehensive collection of knowledge that can aid in research, diagnosis, and treatment of genetic disorders.
One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic diseases. OMIM includes detailed descriptions of genes, their variants, associated conditions, and relevant scientific articles.
Another important resource is PubMed, a database that indexes scientific articles from a wide range of journals. PubMed allows researchers to search for articles and publications related to specific genes and variants, providing additional references and information on genetic conditions.
For specific genes or variants, gene and variant databases such as the Genetic Testing Registry (GTR) and ClinVar can be helpful. These databases provide information on the availability of genetic tests for specific genes and variants, as well as details on the clinical significance of the genetic changes.
In the context of the ASL gene and variants related to argininosuccinic aciduria, the ASL Gene Database, curated by Dr. Etty Bachrach, contains information on the ASL gene, its variants, and associated phenotypes. This database provides a comprehensive overview of the ASL gene and its relevance to argininosuccinic aciduria.
Variant databases such as the Human Gene Mutation Database (HGMD), ClinVar, and the Leiden Open Variation Database provide catalogs of genetic variants and their clinical significance. These databases allow researchers and clinicians to explore the impact of specific variants on protein structure and function, as well as their association with various genetic conditions.
In conclusion, gene and variant databases are essential tools in the field of genetics. They provide a wealth of information on genes, variants, and associated conditions, aiding in research, diagnosis, and treatment of genetic disorders.
References
- Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Argininosuccinate lyase deficiency: 100 genes, 500 variants and still counting. Hum Mutat. 2011;32(8):970-976. doi:10.1002/humu.21533. PubMed
- Scaglia F, Brunetti-Pierri N, Kleppe S, Marini JC, Carter S, Garlick P, Jahoor F, O’Brien W, Lee B. Genotypes and phenotypes of patients in the U.S. with argininosuccinic aciduria. Am J Hum Genet. 2000 Mar;66(3):654-62. PubMed
- Argininosuccinate lyase (ASL). In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1491/. OMIM
- Argininosuccinase (ASL) deficiency. In: Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/argininosuccinase-asl-deficiency#resources
- Kalra M, Gropman A, Greene C, et al. Argininosuccinate lyase deficiency and other urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. Published 2012 May 22. doi:10.1186/1750-1172-7-32. PubMed
- Argininosuccinic Aciduria. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/argininosuccinic-aciduria/
- Argininosuccinate lyase deficiency. Genetic and Rare Diseases Information Center. National Institutes of Health. Available from: https://rarediseases.info.nih.gov/conditions/3531/argininosuccinate-lyase-deficiency
- Argininosuccinate lyase deficiency. In: Genetic Testing Registry. National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0460117/
- Argininosuccinate Aciduria. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Available from: https://www.omim.org/entry/207900