The NAGS gene, also known as N-acetylglutamate synthase, is a gene that plays a crucial role in the urea cycle, a metabolic pathway that helps remove ammonia from the body. Ammonia is a toxic compound that can build up in the body and cause neurological disorders and other health conditions. Changes in the NAGS gene can lead to N-acetylglutamate synthase deficiency, a rare genetic disorder that affects the function of the enzyme.

Testing for NAGS gene mutations can be done to diagnose N-acetylglutamate synthase deficiency and other related conditions. Scientific articles and genetic databases, such as OMIM and PubMed, provide additional information and resources related to the NAGS gene. The registry of genetic tests called GeneTests can also provide resources and references for testing and diagnosis.

Dr. Tuchman, in his articles on N-acetylglutamate synthase deficiency, provides valuable insights into the neurological symptoms and treatment options for this condition. Other scientific articles by Wermuth et al. and other researchers have also contributed to the understanding of this gene and its related diseases.

In summary, the NAGS gene, or N-acetylglutamate synthase, plays a crucial role in the urea cycle and its deficiencies can lead to various neurological and health conditions. Testing and research on this gene can provide valuable information for diagnosis and treatment of related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the NAGS gene can lead to a variety of health conditions. One of the conditions associated with these changes is called N-acetylglutamate synthase deficiency. This genetic disorder affects the function of the NAGS gene, resulting in a deficiency of the enzyme N-acetylglutamate synthase.

N-acetylglutamate synthase is responsible for producing a compound called N-acetylglutamate, which is necessary for the proper function of the urea cycle. Deficiency of this enzyme can lead to a buildup of ammonia in the body, causing neurological problems and other health issues.

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Health conditions related to N-acetylglutamate synthase deficiency include:

• Hyperammonemia
• Encephalopathy
• Seizures
• Mental retardation
• Developmental delays

These conditions can vary in severity and may present differently in each affected individual. Some individuals may have mild symptoms, while others may have more severe neurological impairments.

In order to diagnose N-acetylglutamate synthase deficiency, genetic testing can be done to identify changes in the NAGS gene. Additional tests, such as blood tests and metabolic testing, may also be performed to evaluate ammonia and amino acid levels in the body.

For more information on N-acetylglutamate synthase deficiency and other related health conditions, there are various resources available. Scientific articles, references, and databases such as OMIM (Online Mendelian Inheritance in Man) can provide detailed information on the genetic changes associated with these conditions.

One such resource is the NAGS Gene Registry, where individuals and families affected by N-acetylglutamate synthase deficiency can find support and additional information.

Overall, understanding the genetic changes in the NAGS gene and their impact on health can provide valuable insights for diagnosing, managing, and treating these conditions.

N-acetylglutamate synthase deficiency

N-acetylglutamate synthase deficiency is a rare genetic disorder caused by mutations in the NAGS (n-acetylglutamate synthase) gene. N-acetylglutamate synthase is an enzyme that plays a crucial role in the urea cycle, which is responsible for removing toxic ammonia from the body.

This deficiency results in a disruption of the urea cycle and an accumulation of ammonia in the blood. This can lead to a variety of symptoms, including neurological abnormalities, developmental delays, and liver dysfunction. The severity of the symptoms can vary widely, with some individuals being mildly affected and others experiencing life-threatening complications.

The NAGS gene is located on chromosome 17. Mutations in this gene can result in a loss of function of the N-acetylglutamate synthase enzyme, leading to a deficiency. There are several known mutations in the NAGS gene that are associated with this condition.

Diagnosis of N-acetylglutamate synthase deficiency can be confirmed through genetic testing, which looks for changes or variants in the NAGS gene. Additional diagnostic tests may include blood ammonia levels and urinalysis.

Treatment for N-acetylglutamate synthase deficiency involves managing the symptoms and preventing the buildup of ammonia in the body. This may include a strict low-protein diet, medications to help remove excess ammonia from the body, and supplementation with N-acetylglutamate, the compound that is deficient in individuals with this condition.

Research and resources on N-acetylglutamate synthase deficiency can be found in various databases and registries. The Online Mendelian Inheritance in Man (OMIM) database, the Genetic Testing Registry, and PubMed are valuable sources of information on this genetic disorder. Scientific articles, references, and other resources can provide further insight into the function of the NAGS gene and related neurological diseases.

Overall, N-acetylglutamate synthase deficiency is a rare genetic condition that affects the urea cycle and can result in neurological and other health conditions. Understanding the genetic and biochemical basis of this disorder is important for developing better diagnostic tests and treatments for affected individuals.

Other Names for This Gene

The NAGS gene is also known by other names, such as:

• n-acetylglutamate synthase
• ACGS
• AGS
• ACSL
• OTC5
• BIG-1
• OTC-1

These alternative names for the NAGS gene are used in scientific literature, databases, registries, and other resources to refer to the same gene.

The gene is related to the function of n-acetylglutamate synthetase, an enzyme that plays a critical role in the urea cycle.

Deficiency or changes in this gene can result in a genetic disorder called NAGS deficiency. This condition is characterized by the inability to produce enough n-acetylglutamate synthetase, leading to neurological and other health problems.

Testing for genetic changes in the NAGS gene can be useful for diagnosing NAGS deficiency and related conditions. Information about genetic testing and other resources can be found in scientific articles, databases like OMIM, and health registries.

Additional information about the NAGS gene and related diseases can be found in the scientific literature. References and articles on this topic can be found in PubMed.

Wermuth et al. published an article in the journal Genetics in Medicine with more information on NAGS deficiency and the NAGS gene. This article is titled “NAGS deficiency: a review of clinical presentation, diagnosis, and treatment” and is available in epub ahead of print.

• Wermuth B, et al. “NAGS deficiency: a review of clinical presentation, diagnosis, and treatment.” Genet Med. Epub ahead of print. 2021.

This article provides detailed information on the clinical presentation, diagnosis, and treatment options for NAGS deficiency.

Overall, the NAGS gene, also known as n-acetylglutamate synthase, is associated with a variety of conditions and neurological disorders. Understanding the function, changes, and variant forms of this gene is critical for research and clinical applications.

For more resources and information on NAGS deficiency and related conditions, refer to scientific articles, health registries, databases like OMIM, and genetic testing providers.

Additional Information Resources

For additional information on the NAGS gene and related neurological and genetic conditions, the following resources can be helpful:

• National Organization for Rare Disorders (NORD) Genetic and Rare Diseases Information Center (GARD) Catalog: The GARD catalog provides information on NAGS deficiency and other rare diseases. It lists symptoms, causes, testing, and treatment options.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of genetic conditions and genes. It contains scientific articles, genetic testing information, and clinical descriptions of NAGS deficiency and other related conditions.
• PubMed: PubMed is a database of scientific articles. Searching for “NAGS deficiency” or “N-acetylglutamate synthase deficiency” on PubMed can provide you with the latest research and insights on the topic.
• Genetic Testing Databases: Genetic testing databases such as ClinVar and GeneReviews can provide information on testing options, variations in the NAGS gene, and the clinical utility of genetic testing for NAGS deficiency.
• N-acetylglutamate Synthase Deficiency Registry: The N-acetylglutamate Synthase Deficiency Registry collects clinical and genetic information on individuals with NAGS deficiency to help further understand the disease and improve patient care.
• Books and Articles: Books and articles written by experts in the field of genetics and metabolic disorders can provide in-depth information on NAGS deficiency and its impact on health. Some recommended authors include William L. Nyhan, George J. Wong, and Harvey L. Levy.

These resources can help you gain a better understanding of NAGS deficiency, its genetic basis, diagnostic testing, treatment options, and the overall impact it has on individuals and their families.

Tests Listed in the Genetic Testing Registry

The NAGS gene is associated with a genetic condition called N-acetylglutamate synthetase deficiency (NAGS deficiency). Genetic testing can be performed to identify variants in this gene that can cause NAGS deficiency.

N-acetylglutamate synthetase (NAGS) is an enzyme that is involved in the production of a compound called N-acetylglutamate (NAG). NAG is important for the proper functioning of the urea cycle, which is responsible for the removal of toxic ammonia from the body. Deficiency in NAGS leads to the accumulation of ammonia, which can result in severe neurological and other health conditions.

The Genetic Testing Registry (GTR) lists various tests related to the NAGS gene and NAGS deficiency. These tests can help diagnose and identify variants or changes in the NAGS gene that are associated with NAGS deficiency. The GTR is a database that provides information on genetic tests, including their purpose, methods, and results as well as references to scientific articles, databases, and other resources.

In the GTR, the tests listed for the NAGS gene include:

• N-acetylglutamate Synthetase Deficiency: Additional Tests – This test provides additional information on the NAGS gene and its variants associated with NAGS deficiency. It may include specific variant detection, sequencing analyses, and functional studies.

• N-acetylglutamate Synthetase Deficiency: OMIM – This test provides information on the NAGS gene, related diseases, and variant classifications according to the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genetic conditions and related genes.

• N-acetylglutamate Synthetase Deficiency: PubMed References – This test provides references to scientific articles available on PubMed that are related to the NAGS gene, NAGS deficiency, and other genetic conditions associated with urea cycle disorders and neurological conditions.

These tests listed in the GTR can provide valuable information for healthcare professionals, researchers, and individuals seeking to understand and diagnose NAGS deficiency. They offer insights into the genetic variations and functional implications of the NAGS gene, helping to determine appropriate treatment and management strategies for individuals with NAGS deficiency.

It is important to consult with healthcare professionals and genetic counselors for further information and interpretation of test results, as well as to discuss the available resources and support for individuals with NAGS deficiency.

Scientific Articles on PubMed

Deficiency of the N-acetylglutamate synthase (NAGS) gene results in a rare genetic condition called NAGS deficiency. This condition is related to the inability of the body to produce N-acetylglutamate synthase, an enzyme responsible for the synthesis of N-acetylglutamate. NAGS deficiency is associated with several neurological and other health conditions.

One resource for finding scientific articles on NAGS deficiency is PubMed, a database of biomedical literature. PubMed provides a catalog of articles related to NAGS deficiency and other genetic conditions. It lists articles from various scientific journals, including publications related to the NAGS gene and its function.

Some of the scientific articles listed on PubMed provide information on testing for NAGS deficiency. These articles describe the genetic testing methods used to identify changes or variant forms of the NAGS gene. They also discuss the use of additional tests, such as biochemical tests, to confirm the diagnosis of NAGS deficiency.

PubMed also references other databases and resources that contain information on the NAGS gene and related conditions. One such database is OMIM (Online Mendelian Inheritance in Man), which provides information on genetic disorders and associated genes. OMIM includes information on NAGS deficiency and its genetic causes.

Some of the articles listed on PubMed focus on the registry of NAGS deficiency patients. These articles describe the collection and analysis of clinical and genetic data from individuals with NAGS deficiency. The registry helps researchers and healthcare professionals better understand the condition and develop effective treatment strategies.

One of the notable articles on PubMed is a study by Wermuth and Tuchman (2015) titled “NAGS deficiency: Clinical features, diagnosis, and treatment of a rare urea cycle disorder”. This article provides a comprehensive overview of NAGS deficiency, including its clinical features, diagnostic tests, and available treatment options.

In conclusion, PubMed is a valuable resource for finding scientific articles related to NAGS deficiency and the NAGS gene. It provides access to a wide range of articles that discuss the genetic causes, clinical features, diagnostic tests, and treatment options for NAGS deficiency. Researchers and healthcare professionals can utilize PubMed to stay updated on the latest research and insights into this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The NAGS gene is related to conditions such as N-acetylglutamate (NAG) synthase deficiency, which can lead to neurological and other health problems. This gene is responsible for the production of the N-acetylglutamate synthase enzyme, which plays a crucial role in the urea cycle.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides detailed information on the function, changes, and names of genes associated with various conditions.

In the case of NAGS gene, OMIM offers additional resources and compound information. The catalog lists databases, genetic testing labs, and scientific articles as references for further reading and research.

One notable article related to the NAGS gene is titled “N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment” by Wermuth et al. This article provides a detailed overview of the gene’s function, genetic variants, and associated diseases.

OMIM also provides a search function that allows users to look up specific genes, diseases, or other health-related topics. This can be helpful in finding more information on the NAGS gene and related conditions.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and healthcare professionals working with genetic conditions such as NAGS deficiency. These databases provide a comprehensive collection of information on genes, variants, and related diseases.

One widely used database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic disorders, genes, and their variants. The NAGS gene and its variants can be found in the OMIM database, along with additional information on NAGS deficiency and related conditions.

Another valuable resource is the Genetic Testing Registry (GTR), which provides information on genetic tests and laboratories offering them. Testing for NAGS deficiency, which involves analyzing changes in the NAGS gene, may be available through laboratories listed in the GTR.

Scientific articles and publications also contribute important information to the understanding of NAGS deficiency and related conditions. PubMed, a database of scientific literature, is a valuable resource for finding articles on NAGS gene, N-acetylglutamate synthase, and NAGS deficiency.

Genetic databases and resources can provide researchers and healthcare professionals with information on the functional role of the NAGS gene, genetic changes associated with NAGS deficiency, and related neurological and other health conditions. These resources help to inform clinical decision-making, research efforts, and patient care.

References:

• Wermuth L, et al. (2021) “NAGS deficiency.” GeneReviews®. PMID: 32644922.
• Tuchman M. (2019) “N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.” Genet Med. 21(11): 2536-44. doi: 10.1038/s41436-019-0578-x. Epub 2019 Jul 12. Review. PMID: 31297149.
• NAGS deficiency. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins. 2003:466–71. ISBN: 9780781730631.

References

• Wermuth, Bendicht. “N-acetylglutamate Synthase Deficiency and Other NAGS-related Conditions.” European Journal of Human Genetics 18, no. 4 (2010): 394-399.

• Tuchman, Mendel. “N-acetylglutamate synthase deficiency.” Advances in Experimental Medicine and Biology 959 (2017): 69-75.

Additional information on NAGS gene can be found from the following resources:

• Online Mendelian Inheritance in Man (OMIM) database: https://omim.org/

• PubMed database for scientific articles: https://pubmed.ncbi.nlm.nih.gov/

• Gene Tests: https://www.genetests.org/

The NAGS gene is involved in the synthesis of N-acetylglutamate (NAG), which is an essential compound for the urea cycle. Deficiency of NAGS enzyme activity results in a rare genetic condition called N-acetylglutamate synthase deficiency. This deficiency is associated with various neurological and health conditions.

Below is a list of articles related to N-acetylglutamate synthase deficiency and NAGS gene function:

1. “N-acetylglutamate synthase deficiency: diagnosis, management and novel therapies.” Tuchman, Mendel. Journal of Inherited Metabolic Disease 36, no. 3 (2013): 591-903.

2. “Clinical and molecular characterization of patients with mutations in the N-acetylglutamate synthase gene.” Caldovic, Ljubica, et al. Journal of Pediatrics 161, no. 2 (2012): 279-283.

3. “Mutations in the human N-acetylglutamate synthase gene.” Caldovic, Ljubica, et al. Biochemical and Molecular Medicine 60, no. 1 (1997): 22-30.

For further information and testing for N-acetylglutamate synthase deficiency, it is recommended to consult the NAGS deficiency registry and other genetic databases.