N-acetylglutamate synthase deficiency

N-acetylglutamate synthase deficiency, also known as NAGS deficiency, is a rare genetic condition that affects the urea cycle, a process that helps the body get rid of ammonia. This condition is caused by mutations in the N-acetylglutamate synthase gene, which is responsible for producing an enzyme called N-acetylglutamate synthase.

N-acetylglutamate synthase is essential for the urea cycle, as it helps to produce N-acetylglutamate, a molecule that activates the first step of the cycle. Without this enzyme, ammonia builds up in the body, leading to a range of symptoms, including vomiting, seizures, and changes in brain function.

NAGS deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Parents who are carriers of the gene mutation do not typically have any symptoms of NAGS deficiency.

Diagnosis of NAGS deficiency can be done through genetic testing, which looks for mutations in the N-acetylglutamate synthase gene. Additional testing may be done to assess the function of the enzyme and measure ammonia levels in the blood.

Treatment for NAGS deficiency involves managing symptoms and preventing the build-up of ammonia in the body. This may include dietary changes, such as a low-protein diet, and the use of medications that help to remove excess ammonia. Regular monitoring and follow-up with healthcare professionals are important for managing the condition.

Research studies and clinical trials are ongoing to learn more about the genetic causes, clinical features, and treatment options for NAGS deficiency. Advocacy organizations and rare disease resources can provide support and additional information for patients and their families.

For more information about N-acetylglutamate synthase deficiency, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders: OMIM entry for N-acetylglutamate synthase deficiency
PubMed – a database of scientific articles: PubMed articles about N-acetylglutamate synthase deficiency
ClinicalTrials.gov – a database of clinical trials: ClinicalTrials.gov information on N-acetylglutamate synthase deficiency

With advancements in genetic testing and ongoing research, there is hope for improved understanding, diagnosis, and treatment of NAGS deficiency in the future.

Frequency

N-acetylglutamate synthase deficiency (NAGS) is a rare genetic disorder that affects the urea cycle. It is estimated to occur in about 1 in every 2 million live births worldwide.

According to genetic testing conducted at the N-acetylglutamate Information Center, mutations in the NAGS gene have been found to be the cause of this condition in affected individuals. Data from PubMed research articles and the OMIM database support this information.

The frequency of NAGS deficiency varies among different populations. It is more common in certain ethnic groups, such as Ashkenazi Jews, where the frequency is estimated to be 1 in 75,000 births.

Additional information on the frequency of NAGS deficiency can be found through the N-acetylglutamate Information Center, which provides resources and advocacy support for patients and families affected by this condition. The center also offers genetic testing services and can provide more information on inheritance patterns and associated diseases.

Scientific studies and clinical trials listed on ClinicalTrials.gov provide further insight into the frequency of NAGS deficiency and ongoing research efforts to better understand the disease and develop new treatment options.

Overall, N-acetylglutamate synthase deficiency is a rare genetic disorder with a low frequency in the general population. However, it may be more prevalent in specific ethnic groups. More research and information are needed to fully understand the causes and frequency of this condition.

Causes

N-acetylglutamate synthase deficiency (NAGS) is a rare genetic condition caused by mutations in the NAGS gene, which provides instructions for making the N-acetylglutamate synthase enzyme. This enzyme plays a critical role in the urea cycle, a series of chemical reactions that occur in the liver and are responsible for removing ammonia from the body.

Ammonia is a waste product that is produced when proteins are broken down in the body. Normally, the urea cycle converts ammonia into urea, which can be safely excreted in urine. However, in individuals with NAGS deficiency, the enzyme needed for this conversion is not produced in sufficient amounts or does not function properly. As a result, ammonia builds up in the blood, leading to high levels of ammonia in the body, a condition known as hyperammonemia.

NAGS deficiency is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. Individuals who inherit only one copy of the mutated gene are known as carriers and typically do not show any symptoms of the condition.

The NAGS gene is located on chromosome 17, and more than 50 different mutations in this gene have been associated with NAGS deficiency. These mutations can vary widely in their effects on enzyme function, which may contribute to the variability in symptoms and severity seen in individuals with this condition.

Diagnosing NAGS deficiency typically involves a combination of clinical symptoms, laboratory testing, and genetic testing. Blood tests can measure ammonia levels and other markers of urea cycle function, while genetic testing can identify mutations in the NAGS gene. Additional testing, such as imaging studies of the brain, may be done to evaluate the extent of damage caused by hyperammonemia.

More information about the genetics of NAGS deficiency, including a list of specific mutations and their associated effects, can be found in the OMIM database. OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides a valuable resource for researchers, clinicians, and patients seeking information on genetic conditions.

In addition to OMIM, other scientific resources such as PubMed and clinicaltrial.gov may also have relevant articles and studies on NAGS deficiency. Advocacy and support organizations like the NAGS Patient Advocacy Center and the Tuchman Research and Support Center can provide additional information and resources for individuals and families affected by this condition.

Learn more about the gene associated with N-acetylglutamate synthase deficiency

The N-acetylglutamate synthase deficiency is a rare genetic condition that affects the urea cycle. This metabolic cycle is responsible for removing ammonia from the body. N-acetylglutamate synthase (NAGS) is an enzyme that plays a crucial role in the urea cycle. Deficiency of this enzyme can result in an accumulation of ammonia, leading to a variety of symptoms and health issues.

For more information about N-acetylglutamate synthase deficiency and the associated gene, the following resources may be helpful:

Genetic Information and Support Center: Provides information about the genes involved in N-acetylglutamate synthase deficiency and their inheritance patterns. (genetic.org)
OMIM: A comprehensive database of human genes and genetic disorders, including N-acetylglutamate synthase deficiency. Provides clinical descriptions, genetic information, and references. (omim.org)
PubMed: A database of scientific articles and research studies. Searching for “N-acetylglutamate synthase deficiency” will provide additional information on the topic. (pubmed.ncbi.nlm.nih.gov)
ClinicalTrials.gov: Lists ongoing clinical studies and research trials related to N-acetylglutamate synthase deficiency that are recruiting patients. (clinicaltrials.gov)

In addition, there are various advocacy and support organizations that can provide information and resources for individuals and families affected by N-acetylglutamate synthase deficiency. These may include patient support groups, rare disease organizations, and online communities.

It is important for individuals with N-acetylglutamate synthase deficiency and their families to learn as much as possible about the condition and available treatments. Genetic testing may be necessary to confirm the diagnosis, and additional testing may be required to assess the severity of the deficiency and monitor the condition over time.

By staying informed and accessing appropriate resources and support, individuals with N-acetylglutamate synthase deficiency can better manage their condition and improve their quality of life.

Inheritance

N-acetylglutamate synthase deficiency (NAGS deficiency) is a rare genetic disease that affects the urea cycle, a metabolic cycle responsible for removing ammonia from the body. The condition is caused by mutations in the NAGS gene, which encodes the enzyme N-acetylglutamate synthase.

This condition is inherited in an autosomal recessive manner, which means that both copies of the NAGS gene in an individual must be mutated in order for the disease to be present. If an individual inherits one mutated copy of the gene and one normal copy, they will be a carrier of the condition but will not show any symptoms.

Testing for NAGS deficiency can be done through genetic testing, which involves analyzing a sample of DNA to look for mutations in the NAGS gene. This testing can confirm a diagnosis of NAGS deficiency and help determine the specific mutations present in a patient.

Other Names for This Condition

N-acetylglutamate synthase deficiency
NAGS deficiency
Acetylglutamate synthase deficiency
Carbamoyl phosphate synthetase I deficiency disease
N-acetylglutamic acid synthetase deficiency

Other names for N-acetylglutamate synthase deficiency include NAGS deficiency and acetylglutamate synthase deficiency. It is also known as carbamoyl phosphate synthetase I deficiency disease and N-acetylglutamic acid synthetase deficiency.

Additional Information Resources

This section provides a list of additional resources and references for gaining more knowledge about N-acetylglutamate synthase deficiency.

Scientific Articles and Studies

PubMed: The official database for scientific and medical literature, where you can find research articles and studies related to N-acetylglutamate synthase deficiency.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive source of information on genetic disorders. Search for “N-acetylglutamate synthase deficiency” to access relevant entries.
PubMed Central: A free archive of biomedical and life sciences journal literature. Search for “N-acetylglutamate synthase deficiency” to find open-access articles.

Genetic Testing and Gene Information

Genetic Testing Registry: Look for the “N-acetylglutamate synthase deficiency” entry on the Genetic Testing Registry website to find information about available genetic tests.
NAGS Gene: Learn more about the NAGS gene associated with N-acetylglutamate synthase deficiency by visiting the GeneCards website.

Patient Support and Advocacy

NAGS Deficiency Support Group: The NAGS Deficiency Support Group is a community for patients, families, and caregivers affected by N-acetylglutamate synthase deficiency. Visit their website for information and support.
NORD: The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases, including N-acetylglutamate synthase deficiency. Check their website for more information.

Clinical Trials and Research

ClinicalTrials.gov: Search for ongoing clinical trials related to N-acetylglutamate synthase deficiency to explore potential treatment options and research studies.
The Tuchman Research Center: The Tuchman Research Center is dedicated to advancing the understanding and treatment of urea cycle disorders, including N-acetylglutamate synthase deficiency. Learn more about their research and ongoing studies.

Other Resources

The NIH Genetic and Rare Diseases Information Center: Visit this center’s website for general information on N-acetylglutamate synthase deficiency, including causes, inheritance, and frequency.
Rare Disease Database: Look for the “N-acetylglutamate synthase deficiency” entry on the Rare Disease Database to explore detailed information about this rare condition.
Wermuth’s Lexicon of Rare Diseases: Wermuth’s Lexicon of Rare Diseases is a comprehensive reference book that contains information on various rare diseases. Look for the entry on “N-acetylglutamate synthase deficiency” for a comprehensive overview.

Genetic Testing Information

Genetic testing is a scientific approach used to identify and study genetic variations associated with diseases. In the case of N-acetylglutamate synthase deficiency, genetic testing can provide important information about the condition and help guide treatment decisions.

The ClinicalTrials.gov website is a valuable resource for finding clinical trials related to N-acetylglutamate synthase deficiency. These trials can provide patients with the opportunity to participate in research studies and gain access to new treatment options.

With the advancement of genetic testing, it is now possible to identify the specific gene responsible for N-acetylglutamate synthase deficiency. This information can help healthcare professionals understand the genetic basis of the condition and provide targeted treatment strategies.

For further information about N-acetylglutamate synthase deficiency and other rare diseases, the Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic conditions and associated genes. The database provides detailed information about the inheritance patterns, frequency, and clinical features of rare diseases.

Additional resources for genetic testing and N-acetylglutamate synthase deficiency can be found at advocacy organizations like the N-Acetylglutamate Synthase Deficiency Research & Advocacy Center. These organizations offer support, information, and resources for patients and families affected by rare genetic conditions.

Scientific articles and research papers can also provide valuable insights into the causes, symptoms, and treatment options for N-acetylglutamate synthase deficiency. PubMed, an online database of medical literature, is a reliable source for accessing scientific publications related to this condition.

In conclusion, genetic testing is an important tool in understanding and managing N-acetylglutamate synthase deficiency. Through genetic testing, healthcare professionals can provide personalized care and treatment options for patients with this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides valuable information about a wide range of genetic and rare diseases, including N-acetylglutamate synthase deficiency (NAGS deficiency). NAGS deficiency is a rare genetic condition that affects the Urea Cycle, causing individuals to have difficulty breaking down ammonia in the body. This condition is caused by mutations in the NAGS gene.

At GARD, you can learn more about the causes, inheritance patterns, frequency, and symptoms of NAGS deficiency. You can also find information on testing and diagnosis, treatment options, and ongoing research studies. GARD provides a comprehensive catalog of resources, including scientific articles, clinical trials, and support organizations for patients and their families.

For additional information, GARD suggests exploring the following resources:

National Urea Cycle Disorders Foundation: This organization provides support and advocacy for individuals with urea cycle disorders, including NAGS deficiency. They offer resources and educational materials for patients and their families.
PubMed: PubMed is an online database that provides access to research studies and scientific articles related to NAGS deficiency. This can be a valuable resource for individuals looking to learn more about the condition from a clinical and research perspective.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, including NAGS deficiency. It includes information on the genes associated with the condition, as well as clinical descriptions, inheritance patterns, and references to related scientific articles.
ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. By searching for NAGS deficiency, you can find information on ongoing and completed research studies, including clinical trials evaluating potential treatments and new approaches to managing the condition.

By utilizing these resources, you can gather more information about N-acetylglutamate synthase deficiency and connect with the wider community of researchers, support organizations, and advocacy groups dedicated to improving the lives of individuals affected by this rare genetic condition.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with N-acetylglutamate synthase deficiency, it’s important to know that you are not alone. There are several patient support and advocacy resources available to you. These resources can help you better understand the condition, connect with others facing similar challenges, and access additional information and support.

Support Groups and Organizations

The NAGS Deficiency Association: This nonprofit organization is dedicated to supporting individuals and families affected by N-acetylglutamate synthase deficiency. They provide resources, information, and advocacy for the community.
NORD (National Organization for Rare Disorders): NORD is a patient advocacy organization that provides resources and support for individuals with rare diseases, including N-acetylglutamate synthase deficiency.

Online Communities

The NAGS Deficiency Community: This online community connects patients, caregivers, and families affected by N-acetylglutamate synthase deficiency. It provides a platform to share experiences, ask questions, and provide support.
RareConnect: RareConnect is an online platform that connects individuals living with rare diseases. They have a dedicated community for N-acetylglutamate synthase deficiency where you can connect with others facing similar challenges.

Educational Resources

Genetic and Rare Diseases Information Center (GARD): GARD provides easy-to-understand information about rare genetic diseases, including N-acetylglutamate synthase deficiency. They offer resources for patients, families, and healthcare professionals.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance, and associated conditions of N-acetylglutamate synthase deficiency.

Research and Clinical Trials

ClinicalTrials.gov: This database provides information about ongoing clinical trials for various diseases, including N-acetylglutamate synthase deficiency. It can help you learn about potential treatment options and participating centers.
PubMed: PubMed is a widely used database for scientific research articles. Searching for “N-acetylglutamate synthase deficiency” on PubMed can provide you with the latest research studies, advancements, and clinical findings in the field.

Remember, these resources are just a starting point. It’s important to consult with healthcare professionals and specialists for personalized information and guidance regarding your specific condition and needs.

Research Studies from ClinicalTrialsgov

Research studies on N-acetylglutamate synthase deficiency (NAGS deficiency) are being conducted to further understand this rare genetic condition and develop effective treatments. ClinicalTrialsgov is a comprehensive database that provides information about ongoing and completed clinical trials involving various diseases, including NAGS deficiency.

The Genetic and Rare Diseases Information Center, a resource provided by the National Institutes of Health, offers additional information about NAGS deficiency. They provide details about the symptoms, inheritance pattern, and frequency of the condition. The center also offers support and resources for patients and families affected by this rare disease.

Testing for NAGS deficiency can be done through genetic testing. The OMIM database, as well as other scientific articles and research studies, provide information about the associated genes and genetic mutations linked to this condition.

Dr. Mendel Tuchman and his team at Children’s National Medical Center have conducted extensive research on NAGS deficiency. Their studies have helped shed light on the causes and effects of this condition, particularly on the brain and the urea cycle.

ClinicalTrialsgov offers a catalog of various research studies related to NAGS deficiency. Interested individuals can find more information about ongoing clinical trials and studies aimed at developing better treatments and understanding the underlying mechanisms of the disease.

In conclusion, ongoing research studies from ClinicalTrialsgov, along with scientific articles and resources such as OMIM and PubMed, are providing valuable insights into the genetic inheritance, testing, and support for individuals with NAGS deficiency.

Catalog of Genes and Diseases from OMIM

N-acetylglutamate synthase deficiency (NAGS deficiency) is a rare genetic condition caused by mutations in the gene called NAGS. N-acetylglutamate synthase is an enzyme involved in the urea cycle, which plays a crucial role in the removal of ammonia from the body.

Patients with NAGS deficiency have a reduced ability to produce N-acetylglutamate, a molecule necessary for the proper functioning of the urea cycle. As a result, ammonia accumulates in the blood and can cause serious neurological symptoms, such as seizures, lethargy, and developmental delay.

NAGS deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated NAGS gene to develop the condition. It is a rare condition, with an estimated frequency of less than 1 in 1,000,000 births.

Diagnosis of NAGS deficiency can be confirmed through genetic testing, which identifies mutations in the NAGS gene. This testing can be ordered by a healthcare provider familiar with the condition.

Research has shown that early diagnosis and treatment can significantly improve outcomes for patients with NAGS deficiency. Treatment typically involves a low-protein diet and supplementation with N-carbamylglutamate, a medication that helps to activate the urea cycle. Regular monitoring of ammonia levels in the blood is also important for managing the condition.

There are ongoing research studies and clinical trials investigating potential new treatments for NAGS deficiency. For more information on these studies, visit the clinicaltrials.gov website and search “N-acetylglutamate synthase deficiency.”

For additional resources and support, organizations such as the N-acetylglutamate Deficiency Advocacy Group and the Cycle for NAGS Research Center provide information, advocacy, and support to patients and families affected by NAGS deficiency.

To learn more about NAGS deficiency, you can also refer to scientific articles and publications available on PubMed. OMIM (Online Mendelian Inheritance in Man) is another valuable resource for genetic information, including the names and characteristics of genes associated with NAGS deficiency.

References:

“N-acetylglutamate synthase deficiency”. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency
“NAGS Deficiency Advocacy Group”. Retrieved from https://www.nagsadvocacy.org/
“ClinicalTrials.gov”. U.S. National Library of Medicine. Retrieved from https://clinicaltrials.gov/
“Online Mendelian Inheritance in Man”. Retrieved from https://www.omim.org/
Tuchman M, et al. (2018). Urea cycle disorders. In: Pagon RA, et al. (Eds). GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1217/
Wermuth B. (2016). N-acetylglutamate synthase deficiency. Orphanet Journal of Rare Diseases, 11:142. Retrieved from https://doi.org/10.1186/s13023-016-0520-3

Scientific Articles on PubMed

Research on N-acetylglutamate synthase deficiency is a rapidly growing field, with numerous scientific articles being published on the topic. These articles provide valuable insights into the genes, inheritance patterns, clinical manifestations, and treatment strategies associated with this rare genetic condition.

One notable study by Tuchman et al. (2013) investigated the frequency of N-acetylglutamate synthase deficiency in a cohort of patients from a single center. The researchers found that the condition is rare, with only a few cases identified. They also highlighted the importance of early diagnosis and treatment to prevent brain damage and improve patient outcomes.

Other studies have focused on the genetic causes of N-acetylglutamate synthase deficiency. Wermuth et al. (2015) conducted genetic testing in patients with suspected N-acetylglutamate synthase deficiency and identified mutations in the NAGS gene. This research provides a better understanding of the underlying genetic mechanisms contributing to the development of this condition.

Clinical trials registered on clinicaltrialsgov are also an important resource for learning about ongoing research and treatment options for N-acetylglutamate synthase deficiency. Patients and their families can find information about current clinical trials and potential enrollment opportunities on the clinicaltrialsgov website.

In addition to scientific articles and clinical trials, there are other resources available for patients and families affected by N-acetylglutamate synthase deficiency. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the condition, including genetic inheritance patterns, clinical features, and related genes. Disease advocacy organizations, such as the N-acetylglutamate Synthase Deficiency Advocacy Center, offer support and resources for individuals with the condition and their families.

Overall, the scientific articles published on PubMed, along with resources like clinicaltrialsgov and OMIM, provide a wealth of information for researchers, healthcare professionals, and patients interested in learning more about N-acetylglutamate synthase deficiency. Continued research and collaboration are essential for advancing our understanding of this rare genetic condition and improving patient outcomes.

References

Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Nissim I, Korson MS, Burton B, Yudkoff M. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res. 2008 May;63(5):579-84. doi: 10.1203/PDR.0b013e31816baffc. PMID: 18427282.
Wermuth B, Tuchman M, Qureshi A, Zhang Y, Caldovic L. Genomic characterization of N-acetylglutamate synthase deficiency. J Genet Genomics. 2012 Dec;39(12):695-700. doi: 10.1016/j.jgg.2012.10.005. Epub 2012 Nov 1. PMID: 23217854; PMCID: PMC3814622.
OMIM. N-acetylglutamate synthase deficiency. Online Mendelian Inheritance in Man. https://www.omim.org/. Accessed [date]
ClinicalTrials.gov. N-acetylglutamate synthase deficiency. https://clinicaltrials.gov/. Accessed [date]
Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr. 2004 Nov;145(5):552-4. doi: 10.1016/j.jpeds.2004.07.006. PMID: 15520773.
Tuchman M, Caldovic L, Yudkoff M, Daikhin Y, Nissim I, Horyn O, Nissim I, Korson MS, Burton B. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency. J Inherit Metab Dis. 2008 Oct;31(5):616-20. doi: 10.1007/s10545-008-0900-9. Epub 2008 Sep 17. PMID: 18797877; PMCID: PMC2565802.
Genetic and Rare Diseases Information Center (GARD). N-acetylglutamate synthase deficiency. https://rarediseases.info.nih.gov/. Accessed [date]
Genetic Testing Registry (GTR). N-acetylglutamate synthase deficiency. https://www.ncbi.nlm.nih.gov/. Accessed [date]
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008 Nov;96(3):142-9. doi: 10.1016/j.ymgme.2008.03.009. Epub 2008 May 19. PMID: 18495224; PMCID: PMC2774432.
Wermuth B, Korson MS. N-Acetylglutamate synthase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-. 2018 Dec 6.