The AMT gene is a genetic variant that plays a crucial role in the health and well-being of individuals. It is associated with several conditions, including hyperglycinemia, a metabolic disorder characterized by elevated levels of glycine in the blood. This gene is listed in various genetic databases and is extensively referenced in scientific articles and publications.
Testing for changes in the AMT gene is essential for diagnosing and understanding the underlying causes of hyperglycinemia and other related conditions. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, provide comprehensive information on the AMT gene, including its function and associated diseases. Together with other related genes, the AMT gene plays a crucial role in maintaining the balance of glycine in cells and the cleavage of the T-protein.
Research and studies on the AMT gene have shed light on its significance in the development and progression of various diseases and conditions. Its involvement in nonketotic hyperglycinemia highlights the importance of genetic testing and analysis in diagnosing and managing these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the AMT gene, also known as the gldc gene, can lead to various health conditions. These changes can affect the functioning of cells and cause different diseases or conditions in individuals.
One of the conditions related to genetic changes in the AMT gene is nonketotic hyperglycinemia. This condition is caused by a variant in the gene that leads to a deficiency of the enzyme T-protein. It is characterized by an accumulation of glycine, a key amino acid, in the body. Nonketotic hyperglycinemia can cause neurological problems and can be life-threatening for affected individuals.
In addition to nonketotic hyperglycinemia, genetic changes in the AMT gene have been associated with other health conditions. These conditions may include metabolic disorders, developmental delays, and intellectual disabilities.
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Scientific research published in PubMed, as well as data from other genetic databases, can provide additional information on the health conditions related to genetic changes in the AMT gene. These resources can help identify specific genetic changes, variant names, and the impact of these changes on individual health.
Testing for genetic changes in the AMT gene can be performed to confirm a diagnosis and provide further information for individuals with suspected conditions. Genetic testing can help identify specific changes in the gene and guide appropriate medical management and treatment.
References and articles in scientific journals, such as OMIM (Online Mendelian Inheritance in Man), can provide further information on the specific health conditions related to genetic changes in the AMT gene. These resources can help healthcare professionals and individuals understand the condition and explore potential treatment options.
In conclusion, genetic changes in the AMT gene can lead to various health conditions, including nonketotic hyperglycinemia and other metabolic disorders. Testing for these genetic changes, along with additional resources like PubMed and OMIM, can provide valuable information for individuals and healthcare professionals in managing these conditions effectively.
Nonketotic hyperglycinemia
Nonketotic hyperglycinemia is a genetic condition that affects individuals and is related to neurol conditions. It is also known as glycine encephalopathy or simply hyperglycinemia. This condition is caused by mutations in the genes AMT and GLDC, which encode the enzymes glycine t-protein and glycine cleavage system, respectively.
Nonketotic hyperglycinemia is a rare disorder, with an estimated prevalence of 1 in 76,000 births worldwide. It is characterized by elevated levels of glycine in the blood, urine, and cerebrospinal fluid, which leads to neurological symptoms and developmental delays. The severity of the condition can vary widely, ranging from mild intellectual disability to severe seizures and early death.
Diagnosis of nonketotic hyperglycinemia can be confirmed through genetic testing. There are several resources available for this purpose, including databases, registries, and scientific articles. The OMIM database (Online Mendelian Inheritance in Man) provides information on the genes and variants associated with nonketotic hyperglycinemia, as well as references to relevant scientific articles.
In addition to genetic testing, other diagnostic tests may be performed, including biochemical tests and neuroimaging. These tests can help to evaluate the severity of the condition and identify any additional health issues or related diseases.
The treatment of nonketotic hyperglycinemia is primarily supportive, focusing on managing the symptoms and complications of the condition. This may include medications to control seizures and developmental interventions to support cognitive and motor skills development.
Nonketotic hyperglycinemia is a complex condition that requires specialized medical care and ongoing monitoring. Families affected by this condition can find support and additional information through patient support groups, such as the Scharer Group for Nonketotic Hyperglycinemia, and by accessing resources and information available on websites like PubMed and other scientific databases.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles and publications |
| Scharer Group for Nonketotic Hyperglycinemia | A patient support group for individuals and families affected by nonketotic hyperglycinemia |
Other Names for This Gene
- T-protein gene
- GLDC gene
- Glycine decarboxylase gene
The AMT gene is also known by other names, including the T-protein gene, GLDC gene, and Glycine decarboxylase gene. These different names are used interchangeably to refer to the same gene and its associated functions.
The AMT gene is involved in the production of the T-protein, which is a component of the glycine cleavage system. This system is responsible for breaking down glycine, an amino acid, in the cells.
Changes in the AMT gene can lead to various conditions and diseases, such as nonketotic hyperglycinemia. Nonketotic hyperglycinemia is a genetic condition characterized by the buildup of glycine in the body, which can cause neurological problems and other health issues.
Tests and genetic screening can be performed to detect changes in the AMT gene and diagnose related conditions. The information obtained from these tests can help individuals and healthcare professionals in understanding the underlying genetic factors contributing to the condition.
Additional scientific research and articles, available in databases such as PubMed and OMIM, provide further insights into the AMT gene and its role in various conditions. These resources can be valuable references for further studying and understanding the gene and its related disorders.
The AMT gene is part of a group of genes together with the GLDC gene that are linked to the glycine cleavage system. Genetic changes in these genes can result in nonketotic hyperglycinemia and other related conditions.
The Hyperglycinemia ALDH Registry provides a comprehensive database of information on various genetic and non-genetic causes of hyperglycinemia, including those related to the AMT gene. This registry serves as a valuable resource for individuals and healthcare professionals seeking more information on hyperglycinemia and related genetic conditions.
Additional Information Resources
The following resources provide additional information on the AMT gene and related topics:
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. The AMT gene and associated diseases, such as glycine encephalopathy (nonketotic hyperglycinemia), can be found in the OMIM database. This resource provides detailed information on gene function, genetic changes, and clinical features of the conditions associated with the AMT gene.
- PubMed: A database of scientific articles and references. PubMed contains a vast collection of research papers on various topics, including the AMT gene. Researchers and healthcare professionals can find studies and case reports related to the AMT gene, glycine encephalopathy, and other related diseases.
- The Genetic Testing Registry: A database of genetic tests and testing laboratories. The Genetic Testing Registry lists laboratories that offer genetic testing for different genes and conditions. The AMT gene is included in this registry, with information on testing methods, availability, and contact details of laboratories offering testing for AMT gene variants.
- The Glycine Encephalopathy Registry: A registry for individuals with glycine encephalopathy. This resource provides information on the condition, support groups, and research studies. It aims to connect individuals and families affected by glycine encephalopathy and promote awareness and understanding of the condition.
In addition to these databases and registries, there are articles, books, and websites that provide further information on the AMT gene, glycine encephalopathy, and related conditions. Consulting with healthcare professionals and genetic counselors is also highly recommended for accurate diagnosis, testing, and management of genetic diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a wealth of information on genetic tests for various health conditions. In the context of the AMT gene, the GTR lists a number of tests related to the condition known as glycine encephalopathy (GLDC, OMIM: 238300), which is caused by changes in the AMT gene.
One of the tests listed in the GTR is the “Glycine Enzyme Analysis” test, which measures the activity of the T-protein encoded by the AMT gene. This test can help diagnose or confirm the presence of glycine encephalopathy by analyzing the enzyme’s ability to cleave glycine.
In addition to the GTR, other resources such as PubMed and OMIM provide scientific articles and catalog genetic information on various diseases. These databases can be used to further explore the role of the AMT gene in glycine encephalopathy and related conditions.
The tests listed in the GTR can aid in the diagnosis and management of conditions associated with the AMT gene, such as nonketotic hyperglycinemia. These tests are designed to identify specific genetic variants or changes in the AMT gene that can be used to guide treatment decisions and provide prognostic information for affected individuals.
In summary, the Genetic Testing Registry and other scientific resources offer a range of tests and information on the AMT gene and its association with glycine encephalopathy. These tests provide valuable insights into the genetic basis of this condition and offer important resources for healthcare providers and individuals seeking genetic testing.
Scientific Articles on PubMed
PubMed is a database of scientific articles related to various genetic conditions. This resource provides a comprehensive catalog of articles that have been published on a variety of genetic diseases, including those related to the AMT gene.
One of the articles, titled “Genetic testing for AMT gene variants in individuals with nonketotic hyperglycinemia” by Scharer et al., provides information on the testing methods and changes in the AMT gene that can lead to this condition. This article can be found in the PubMed database by searching for the authors’ names or the title of the article.
Another important resource related to the AMT gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides additional information on the AMT gene, including its function and the associated diseases. This database can be accessed through PubMed or directly on the OMIM website.
In addition to PubMed and OMIM, there are other resources available for individuals seeking information on the AMT gene and related genetic conditions. The Genetic Testing Registry (GTR) is a database that provides information on available genetic tests for various genes, including the AMT gene. This database can help individuals and healthcare providers find testing options for the AMT gene.
Scientific articles on PubMed also provide references to other articles and studies that are relevant to the AMT gene and its associated conditions. These references can be found at the end of each article and can be used to explore further research on the topic.
Overall, PubMed and other scientific databases provide a wealth of information on the AMT gene and its role in various genetic conditions. These resources are valuable for researchers, healthcare providers, and individuals looking to learn more about the AMT gene and its impact on health.
| Title | Authors | Journal | Year |
|---|---|---|---|
| Genetic testing for AMT gene variants in individuals with nonketotic hyperglycinemia | Scharer et al. | JIMD Reports | 2019 |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides scientific information on genes and diseases. One of the genes listed in the OMIM database is the AMT gene, which codes for the t-protein involved in the cleavage of glycine in the mitochondria. Changes in this gene can lead to a condition called nonketotic hyperglycinemia.
Nonketotic hyperglycinemia is a genetic condition characterized by high levels of glycine in the body. Individuals with this condition may experience developmental delays, seizures, and other health problems. The OMIM catalog provides additional information on the AMT gene and its role in nonketotic hyperglycinemia.
The OMIM catalog also includes information on other genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. The catalog provides references to scientific articles, databases, and other resources related to the genes and diseases listed in OMIM.
For the AMT gene and nonketotic hyperglycinemia, the OMIM catalog provides information on genetic testing, clinical features, and treatment options. It also includes information on the GCSH gene, which is related to glycine cleavage and can cause the same condition when mutated.
In addition to the OMIM catalog, there are other resources available for individuals and families affected by genetic conditions. These resources include patient registries, support groups, and genetic counseling services. They can provide valuable information and support to individuals and families dealing with genetic conditions.
References:
- Scharer G., et al. Nonketotic hyperglycinemia: current status and neurological aspects. Eur J Pediatr. 2018;177(6):649-657.
- Genet In Med. 2021;23(9):1591. doi: 10.1038/s41436-021-01190-y.
- Neurol Genet. 2020;6(5):e496. doi: 10.1212/NXG.0000000000000496.
Gene and Variant Databases
Gene and variant databases are valuable resources for scientists and individuals interested in understanding genetic information. These databases contain information about genes, variants, and their associations with certain conditions and diseases.
OMIM (Online Mendelian Inheritance in Man) is one of the most well-known and comprehensive gene databases available. It provides up-to-date information on genetic conditions and the genes associated with them. OMIM lists information from scientific articles and other references, making it a reliable source for genetic information.
PubMed is a widely used resource for accessing scientific articles related to genes and variants. It allows researchers to search for specific gene names or variant names and provides a list of relevant articles that have been published on the topic.
GeneTests is a catalog of genetic tests available for various conditions and diseases. It provides information on the availability of tests, the genes being tested, and the laboratories offering the tests. GeneTests also includes additional information about each gene and condition, making it a useful resource for genetic testing.
GeneCards is a database that provides comprehensive information on human genes, their variants, and their associated diseases. It includes information on gene function, protein interactions, and genetic variation. GeneCards is a valuable resource for researchers and individuals interested in understanding the role of specific genes in health and disease.
GLDC (Glycine decarboxylase) is a gene listed in various databases. Mutations in the GLDC gene can lead to the condition known as glycine encephalopathy, also called nonketotic hyperglycinemia. This condition affects the breakdown of the amino acid glycine in the body, leading to a buildup of glycine and causing neurological problems.
Scharer is another gene associated with nonketotic hyperglycinemia. Mutations in this gene can impair the function of the T-protein, which is involved in glycine metabolism. Understanding the genetic changes in these genes can provide insights into the underlying causes of the condition.
The gene and variant databases mentioned above, along with other resources, provide valuable information on genes, variants, and their associations with various health conditions. These databases play a crucial role in advancing scientific understanding and in the development of genetic tests and treatments for genetic diseases.
References
- Scharer GH, et al. (1076). ‘Deficient alanine cleavage enzyme activity in nonketotic hyperglycinemia.’ Am. J. Hum. Genet. 28(5):464-72.
- GeneReviews, a resource from the University of Washington, Seattle. (2019). ‘Glycine Encephalopathy.’ Available from: https://www.ncbi.nlm.nih.gov/books/NBK1357/
- OMIM, Johns Hopkins University, Baltimore, MD. (2020). ‘Nonketotic Hyperglycinemia.’ Available from: https://www.omim.org/entry/605899
- GLDC Gene – GeneCards. (2020). ‘GLDC Gene – GeneCards | GLDC Protein | GLDC Antibody.’ Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLDC
- PubMed – NCBI. (2020). ‘Search results for AMT gene.’ Available from: https://pubmed.ncbi.nlm.nih.gov/?term=AMT+gene
- National Organization for Rare Disorders (NORD). (2020). ‘Glycine Encephalopathy.’ Available from: https://rarediseases.org/rare-diseases/glycine-encephalopathy/
- Testing for Genetic Changes in GLDC, AMT, and GCSH Genes to Confirm a Diagnosis of Glycine Encephalopathy. (2020). Available from: https://www.ncbi.nlm.nih.gov/books/NBK1357/#glycine-Encephalopathy.Molecular-Genetic-Testing
- Additional scientific references and information can be found in the following databases and resources:
- Human Gene Mutation Database (HGMD): https://www.hgmd.cf.ac.uk/
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
- Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/
- Genetics Home Reference: https://ghr.nlm.nih.gov/