Asparagine synthetase deficiency

Published Categorized as Genetics
Asparagine synthetase deficiency

Asparagine synthetase deficiency is a rare genetic condition that affects the production of the enzyme asparagine synthetase. This enzyme is essential for the synthesis of the amino acid asparagine, which is important for normal brain function. Without enough asparagine synthetase, individuals with this condition may experience developmental delay, intellectual disability, and other neurological problems.

This condition is caused by mutations in the ASNS gene, which encodes the asparagine synthetase enzyme. These mutations can lead to a complete absence of the enzyme or a reduced activity, resulting in a deficiency of asparagine. Asparagine synthetase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ASNS gene must be mutated for the condition to occur.

Diagnosis of asparagine synthetase deficiency can be made through genetic testing, which can identify mutations in the ASNS gene. Additionally, clinical trials and research studies are underway to learn more about the condition and develop potential treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to asparagine synthetase deficiency.

For individuals and families affected by asparagine synthetase deficiency, there are also advocacy and support resources available. Organizations such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) provide scientific information, support, and additional resources for individuals with rare genetic conditions.

To learn more about asparagine synthetase deficiency, you can also refer to articles and references available on PubMed and OMIM. These resources provide up-to-date scientific information and research studies on the condition. It is important to consult with healthcare professionals and genetic counselors for proper diagnosis, testing, and management of asparagine synthetase deficiency.

Frequency

The frequency of Asparagine synthetase deficiency, also known as congenital asparagine synthetase deficiency, is currently unknown. This is a very rare genetic condition and only a few individuals with this condition have been reported in the medical literature.

According to reports from PubMed and OMIM (Online Mendelian Inheritance in Man), there have been several case reports and studies describing the genetic mutations and clinical problems associated with this condition.

Additional information about the frequency of Asparagine synthetase deficiency can be found in scientific articles, genetic databases, and patient support resources. These sources may provide more information about the number of affected individuals and the clinical features of the condition.

At this time, there are no clinical trials listed on clinicaltrials.gov specifically for Asparagine synthetase deficiency. However, further research and studies are ongoing to learn more about the causes, inheritance patterns, and associated problems of this condition.

It is important for individuals and families affected by Asparagine synthetase deficiency to consult with their healthcare providers and genetic counselors to learn more about available testing and treatment options.

For more information and resources about Asparagine synthetase deficiency and other rare genetic diseases, individuals and families can contact advocacy organizations and research institutions specializing in genetic conditions.

References:

  1. “Asparagine synthetase deficiency” – OMIM
  2. “ASNS Gene – GeneCards | ASNS Protein | ASNS Antibody” – GeneCards
  3. “Asparagine synthetase deficiency – Genetics Home Reference”
  4. “Asparagine synthetase deficiency – Pubmed”
  5. “ClinicalTrials.gov”

Causes

Asparagine synthetase deficiency (ASD) is caused by mutations in the ASNS gene. Research has shown that mutations in the ASNS gene can lead to a deficiency of the enzyme asparagine synthetase, which is responsible for the production of the amino acid asparagine.

Genetic testing can be done to identify these mutations and provide more information about the condition. Other problems can also cause a deficiency of asparagine synthetase, such as central nervous system diseases and certain metabolic disorders.

Additional research is ongoing to learn more about the causes of ASD. The Online Mendelian Inheritance in Man (OMIM) database and clinicaltrialsgov can provide more information about genetic studies and clinical trials related to this condition.

Individuals affected by ASD and their families can also seek support and resources from advocacy groups and organizations specializing in rare genetic disorders. These organizations can provide information about the condition, offer support, and connect individuals with other affected families.

It is important for individuals with suspected ASD to undergo genetic testing to confirm the presence of ASNS gene mutations. This can help with diagnosis and provide more information about the condition.

References:

  1. Pubmed
  2. Genet
  3. OMIM

Further scientific articles and patient resources can be found through these references and through other scientific databases.

ASD is a rare condition with a frequency that is currently unknown. It is associated with delayed development and intellectual disability.

Some individuals with ASD may also experience muscle weakness and atrophy. The inheritance of ASD can be autosomal recessive, meaning that two copies of the mutated gene are necessary for the condition to be present.

Genetic testing and counseling can provide more information on the inheritance pattern and the risk of having an affected child.

Learn more about the gene associated with Asparagine synthetase deficiency

Asparagine synthetase deficiency is a rare genetic condition that affects the central nervous system. It is caused by mutations in the ASNS gene, which provides instructions for making the enzyme asparagine synthetase. This enzyme plays a critical role in the production of asparagine, an amino acid that is important for normal brain function.

The ASNS gene is located on chromosome 7. Mutations in this gene can lead to a decrease in the production of asparagine synthetase or a nonfunctional enzyme, resulting in a buildup of toxic substances in the brain and causing the symptoms of Asparagine synthetase deficiency.

Individuals with Asparagine synthetase deficiency may experience developmental delay, intellectual disability, problems with movement and coordination, and muscle weakness. Some affected individuals may also have seizures or vision problems. The severity and specific symptoms can vary widely between individuals.

Testing for mutations in the ASNS gene can confirm a diagnosis of Asparagine synthetase deficiency. Genetic testing may be recommended for individuals with symptoms suggestive of the condition, as well as their family members.

There is no cure for Asparagine synthetase deficiency, but management options are available to help alleviate symptoms and improve quality of life. Support and advocacy organizations can provide resources and information for affected individuals and their families.

Additional information about Asparagine synthetase deficiency and its associated gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), Genetests, and GeneReviews. These resources provide detailed information on the condition, inheritance patterns, frequency, and clinical presentation of the disease.

Furthermore, clinical trials may be available for individuals with Asparagine synthetase deficiency. ClinicalTrials.gov is a useful resource for finding ongoing clinical trials and research studies related to the condition.

In conclusion, the gene associated with Asparagine synthetase deficiency is the ASNS gene. Mutations in this gene can lead to the symptoms of the condition, which affects the central nervous system. Genetic testing, support, and advocacy organizations, as well as scientific resources, are available to individuals and families affected by this rare genetic disorder.

Inheritance

Asparagine synthetase deficiency is an inherited condition caused by mutations in the ASNS gene. The ASNS gene provides instructions for making the enzyme asparagine synthetase, which is involved in the production of the amino acid asparagine. Mutations in this gene result in a shortage or absence of functional asparagine synthetase, leading to the signs and symptoms of this condition.

This condition is inherited in an autosomal recessive pattern, which means that both copies of the ASNS gene in each cell have mutations. The parents of an individual with asparagine synthetase deficiency each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Genetic testing can confirm a diagnosis of asparagine synthetase deficiency by identifying mutations in the ASNS gene. This testing may also be used to determine whether other family members are carriers of the condition.

More information about the inheritance and genetics of asparagine synthetase deficiency can be found in the “Inheritance” section of the ASNS gene entry in the Online Mendelian Inheritance in Man (OMIM) catalog (OMIM entry 615574).

Additional information about inheritance, genetic testing, and support resources can be found on the websites of advocacy and support organizations for individuals with asparagine synthetase deficiency.

  • The ClinicalTrials.gov website (clinicaltrials.gov) may have information about clinical trials for this condition.
  • PubMed is a searchable database of scientific articles and references on a wide range of topics (pubmed.ncbi.nlm.nih.gov).

Individuals with asparagine synthetase deficiency and their families may also find it helpful to speak with a healthcare professional or genetic counselor for additional information and support.

Other Names for This Condition

  • Congenital asparagine synthetase deficiency
  • Asparagine synthetase deficiency
  • ASNSD
  • ASD (Asparagine synthetase deficiency)
  • Developmental delay and neurologic problems associated with inherited mutations in the ASNS gene

Asparagine synthetase deficiency is a rare genetic condition that is also called congenital asparagine synthetase deficiency or ASD (Asparagine synthetase deficiency).

This condition is associated with mutations in the ASNS gene, which causes problems with the production of the enzyme asparagine synthetase. Asparagine synthetase is responsible for the conversion of aspartic acid to asparagine, an important amino acid.

Individuals with asparagine synthetase deficiency may experience developmental delay, neurologic problems, and muscle weakness. Symptoms can range from mild to severe and can include intellectual disability, seizures, hypotonia, and muscle atrophy.

Genetic testing can confirm the diagnosis of asparagine synthetase deficiency. Additional testing may be needed to evaluate the extent of the condition and to identify any associated abnormalities.

There are currently no specific treatments for asparagine synthetase deficiency. Management focuses on symptom management and supportive care.

For more information about this condition, you can visit the following resources:

  • Genetic and Rare Diseases Information Center (GARD): Provides information and resources about rare diseases, including asparagine synthetase deficiency.
  • Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles and references about asparagine synthetase deficiency.
  • Advocacy Organizations: Organizations that offer support, resources, and information about asparagine synthetase deficiency and other rare genetic conditions.
  • ClinicalTrials.gov: Provides information about ongoing clinical studies and research related to asparagine synthetase deficiency.

It is important to seek genetic counseling to understand the inheritance and recurrence risk of asparagine synthetase deficiency, as well as to learn about available support and resources.

Additional Information Resources

  • The Asparagine Synthetase Deficiency Advocacy and Support Group: This organization provides support, resources, and advocacy for individuals and families affected by Asparagine Synthetase Deficiency. They also fund research studies and clinical trials related to this condition. Visit their website at www.asparaginesynthetasedeficiency.org.
  • Genetic and Rare Diseases (GARD) Information Center: GARD provides information about rare diseases including Asparagine Synthetase Deficiency. They offer resources and support for individuals and families affected by this condition. Learn more at https://rarediseases.info.nih.gov/diseases/12797/asparagine-synthetase-deficiency.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the inheritance, clinical features, and frequency of Asparagine Synthetase Deficiency. Visit their website at www.omim.org/entry/615574.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to Asparagine Synthetase Deficiency. You can find information about current studies and learn how to participate. Visit https://clinicaltrials.gov and search for “Asparagine Synthetase Deficiency” to find relevant studies.
  • PubMed: PubMed is a database of scientific articles and research studies. You can find publications related to Asparagine Synthetase Deficiency by searching for keywords such as “Asparagine Synthetase Deficiency” or “ASNSD”. Visit their website at https://pubmed.ncbi.nlm.nih.gov/?term=Asparagine+Synthetase+Deficiency.

Additional information and resources can be found by exploring these websites and conducting further research on Asparagine Synthetase Deficiency. It is important to stay informed and connected with the scientific community and patient organizations to learn more about this rare genetic condition, its causes, associated problems, testing, and available support.

Genetic Testing Information

Asparagine synthetase deficiency, also called congenital asparagine synthetase deficiency, is a rare condition caused by mutations in the gene ASNS. This gene provides instructions for making the enzyme asparagine synthetase, which is involved in the production of the amino acid asparagine.

This genetic condition 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 — to develop the condition. Individuals who carry only one copy of the mutated gene are called carriers, and they typically do not have signs or symptoms of the condition.

Genetic testing can be used to identify mutations in the ASNS gene and confirm a diagnosis of asparagine synthetase deficiency. This testing can also determine if an individual is a carrier of the condition. Understanding the specific mutations present in an affected individual can provide valuable information about the severity and the course of the condition.

There are several resources available for individuals and families affected by asparagine synthetase deficiency. Research articles, scientific studies, and genetic databases such as OMIM and PubMed can provide additional information on the condition and its associated symptoms. Organizations like Genet and Genetic Testing Registry can also provide information about genetic testing and clinical trials.

Support and advocacy groups can provide individuals and families with resources, support, and information on asparagine synthetase deficiency. These groups often have patient registries and can connect affected individuals with others who have the condition. They may also provide educational materials and information on the latest research and treatment options.

If you are considering genetic testing for asparagine synthetase deficiency, it is important to consult with a healthcare professional or genetic counselor. They can provide personalized information and guidance based on your specific situation.

Below are some resources that can provide more information on asparagine synthetase deficiency:

These resources can provide more information on the condition, genetic testing, support groups, and current research studies. It is important to stay informed and seek support when dealing with a rare genetic condition like asparagine synthetase deficiency.

Patient Support and Advocacy Resources

Patients affected by Asparagine synthetase deficiency, a rare genetic condition, may benefit from various support and advocacy resources. These resources can provide assistance and information to individuals and families affected by the condition.

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about Asparagine synthetase deficiency, its inheritance patterns, and causes. They also offer resources for genetic testing, clinical trials, and genetic counseling.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It offers detailed information about Asparagine synthetase deficiency and provides references to relevant research articles and studies.
  • ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource to learn about ongoing clinical trials for Asparagine synthetase deficiency. These trials aim to provide more information about the condition, its symptoms, and possible treatment options.
  • Asparagine Synthetase Deficiency Support Groups: Support groups can offer a sense of community and understanding for affected individuals and their families. These groups provide a platform to share experiences, ask questions, and find emotional support from others who are facing similar challenges.
  • Additional Resources: Other resources like articles, studies, and websites can provide more information about Asparagine synthetase deficiency and related conditions. PubMed, a database of biomedical literature, can be a useful tool to access research articles and studies on this rare condition.
  • Genetic Testing: Genetic testing can help confirm the diagnosis of Asparagine synthetase deficiency and identify specific mutations in the ASNS gene. It can also provide information about the inheritance pattern and the risk of passing the condition to future generations.
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By utilizing these patient support and advocacy resources, individuals affected by Asparagine synthetase deficiency can access valuable information, support, and opportunities for participation in research and clinical trials. These resources can play a crucial role in improving the understanding and management of this rare genetic condition.

Research Studies from ClinicalTrialsgov

Asparagine synthetase deficiency is a rare genetic disorder that causes a delay in the development of central nervous system and causes problems with the patient’s muscle tone, intellectual abilities, and movement. It is also associated with congenital microcephaly, a condition characterized by a smaller than normal head size and brain development.

Research studies conducted by ClinicalTrialsgov support the genetic basis of this condition. Mutations in the ASNS gene, which is responsible for the production of asparagine synthetase, have been identified as the cause of asparagine synthetase deficiency. This information can be found in the Online Mendelian Inheritance in Man (OMIM) catalog under the OMIM number 615574.

Asparagine synthetase deficiency is a rare condition, and more research studies are needed to learn about its frequency and inheritance patterns. ClinicalTrialsgov provides additional resources for individuals affected by this condition, including information about clinical trials and genetic testing. These resources can help patients and their families find support, learn more about the condition, and connect with advocacy groups.

Scientific articles and references from PubMed can also provide valuable information about asparagine synthetase deficiency. Genetic testing can be done to confirm the presence of ASNS gene mutations and diagnose this condition. It is important for healthcare providers and researchers to stay up-to-date with the latest research studies and findings to provide the best care for individuals with asparagine synthetase deficiency.

Resources Information
ClinicalTrialsgov Research studies, clinical trials, genetic testing information
OMIM Online Mendelian Inheritance in Man catalog with information about the ASNS gene and associated diseases
PubMed Scientific articles and references related to asparagine synthetase deficiency

Asparagine synthetase deficiency is a rare genetic disorder that affects the production of asparagine synthetase, leading to central nervous system development delay and other associated problems. Research studies are ongoing to learn more about the genes and mutations involved in this condition, as well as to develop better testing methods and treatment options.

Catalog of Genes and Diseases from OMIM

In the context of the Asparagine synthetase deficiency, OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on the associated gene, clinical trials, and research studies. OMIM provides a comprehensive catalog of genes and diseases, including rare conditions like Asparagine synthetase deficiency.

Asparagine synthetase deficiency, also known as congenital glycosylation disorder (called AGA1 or ASNSD1), is a rare condition caused by mutations in the ASNS gene. This central gene is responsible for the production of the enzyme asparagine synthetase, which plays a vital role in protein synthesis.

Individuals affected by Asparagine synthetase deficiency may experience a range of symptoms, including intellectual disability, delayed development, seizures, and muscle atrophy. The frequency of this condition is unknown, but it is considered to be a very rare disorder.

To learn more about Asparagine synthetase deficiency, individuals and healthcare professionals can access the OMIM database for additional information. OMIM provides detailed resources on the causes, inheritance patterns, clinical features, and genetic mutations associated with this condition.

Research articles and scientific studies on Asparagine synthetase deficiency can also be found on OMIM. These studies provide valuable insights into the condition and contribute to ongoing research efforts for improved diagnosis, treatment, and support for affected individuals.

In addition to OMIM, there are other resources available for testing and support for individuals with Asparagine synthetase deficiency. ClinicalTrials.gov is a clinical trial registry that provides information on ongoing research studies and trials related to this condition. Advocacy groups and patient support organizations may also offer resources and information for affected individuals and their families.

References:

  1. Borck, G., et al. (2007). Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease, 30(3), 417-421.
  2. Online Mendelian Inheritance in Man (OMIM).
    • Gene: ASNS, 108970
    • Condition: Asparagine Synthetase Deficiency, 615574
  3. ClinicalTrials.gov.

Scientific Articles on PubMed

Asparagine synthetase deficiency is a rare genetic condition that affects individuals. It is also known as congenital asparagine synthetase deficiency. The condition is caused by mutations in the ASNS gene, which is responsible for producing the enzyme asparagine synthetase.

Scientific articles on PubMed provide valuable information about this condition and support further research. They also catalog case studies, clinical trials, and additional resources for individuals affected by this condition.

PubMed is a well-known resource for scientific articles on various diseases and conditions. It is a central database that collects and organizes information from different research studies and clinical trials. By searching for the term “asparagine synthetase deficiency” on PubMed, individuals can learn more about the frequency, inheritance patterns, clinical manifestations, and testing methods for this condition.

One of the key findings from these scientific articles is the association of asparagine synthetase deficiency with central nervous system atrophy and developmental delay. This information can help healthcare professionals diagnose affected individuals and provide appropriate support and treatment.

Advocacy groups and organizations have also contributed to the body of knowledge about asparagine synthetase deficiency. They provide additional resources, such as patient support groups, educational materials, and funding for research. These resources can help affected individuals and their families navigate the challenges of living with this condition.

For individuals interested in participating in research studies or clinical trials, the clinicaltrialsgov website provides information about ongoing studies related to asparagine synthetase deficiency. This can be a valuable opportunity to contribute to advances in understanding and treating this condition.

Overall, scientific articles on PubMed offer a wealth of information about asparagine synthetase deficiency, including its causes, associated problems, testing methods, and more. They are an essential resource for healthcare professionals, researchers, and individuals affected by this rare genetic condition.

References:

  1. “Asparagine Synthetase Deficiency.” GeneReviews®, NCBI Bookshelf, 2003.
  2. Kaufman, Rachel M., et al. “Intellectual Disability, Developmental Delay, and Hypotonia Due to Asparagine Synthetase Deficiency: New Clinical Features and Long-Term Follow-Up of a Neurodevelopmental Disorder.” JAMA Neurology, vol. 71, no. 8, 2014, pp. 986–992.
  3. Smith, Danielle E., et al. “Pathogenic ASNS Variants Cause Developmental Delay / Intellectual Disability and Hypotonia.” Human Mutation, vol. 36, no. 11, 2015, pp. 1009–1013.
  4. “ASNS Gene.” Genetics Home Reference, U.S. National Library of Medicine, 2022.
  5. Gilis, Filip, et al. “Asparagine Synthetase Deficiency Diagnostic Testing.” Atlas of Genetics and Cytogenetics in Oncology and Haematology, vol. 25, no. 9, 2021, pp. 383–387.

References

Additional information and scientific articles can be found in the following resources:

Support and advocacy for individuals affected by Asparagine synthetase deficiency can be found through the following organizations:

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.