Glutathione synthetase deficiency is a rare genetic condition that affects the production of glutathione, a powerful antioxidant in the body. This condition is caused by mutations in the GSS gene, which provides instructions for making the enzyme glutathione synthetase. Glutathione synthetase is responsible for catalyzing the synthesis of glutathione from its precursor molecules.

Glutathione synthetase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated GSS gene – one from each parent – in order to develop the condition. The GSS gene is located on chromosome 20.

Patients with glutathione synthetase deficiency can experience a range of clinical symptoms, including hemolytic anemia, neurological problems, and metabolic acidosis. The severity of the condition can vary greatly between individuals. Additional research is needed to learn more about the causes and mechanisms of this condition.

Diagnosis of glutathione synthetase deficiency can be made through genetic testing, which looks for mutations in the GSS gene. There are also other tests available for assessing glutathione levels in the body. It is important for patients and their families to seek genetic counseling and testing to better understand their risk and plan for the future.

Currently, there is no cure for glutathione synthetase deficiency. Treatment options focus on managing symptoms and preventing complications. This may include blood transfusions for anemia, medications to control seizures or acidosis, and dietary modifications.

For more information on Glutathione Synthetase Deficiency, clinical trials, and support resources, please visit the Glutathione Synthetase Deficiency page on the National Center for Advancing Translational Sciences (NCATS) website. You can find additional articles, references, and scientific studies on PubMed, OMIM, and ClinicalTrials.gov.

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Frequency

Glutathione synthetase deficiency is a rare inherited disorder. According to OMIM (Online Mendelian Inheritance in Man), there have been only a few reported cases of this condition.

Glutathione synthetase deficiency is caused by mutations in the GSS gene, which is responsible for producing the enzyme glutathione synthetase. This enzyme is essential for the synthesis of glutathione, an important molecule involved in antioxidant defense and detoxification processes within cells.

The exact frequency of glutathione synthetase deficiency is unknown. It is estimated to affect fewer than 1 in 1,000,000 individuals worldwide. The condition has been reported in different populations and ethnicities.

Most of the information available on glutathione synthetase deficiency comes from research studies and case reports. Patients with this condition may experience a wide range of symptoms, including hemolytic anemia, chronic metabolic acidosis, and neurological abnormalities.

For more information on glutathione synthetase deficiency, patients and healthcare providers can consult resources such as OMIM, PubMed, and genetic advocacy organizations. These sources provide additional information on the genetic causes, clinical features, and inheritance patterns of the condition.

Genetic testing is available for glutathione synthetase deficiency. This testing can confirm the diagnosis and help guide management and treatment decisions. It is recommended that individuals with symptoms suggestive of this condition seek evaluation by a clinical genetics specialist.

Other genes associated with glutathione and related pathways may also play a role in the development of this condition. Further research is needed to better understand the underlying mechanisms and potential treatment options.

ClinicalTrials.gov is a valuable resource for finding ongoing research studies and clinical trials related to glutathione synthetase deficiency. These studies may offer new insights into the condition and potential therapies.

References:

  1. Pyroglutamic Acidemia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK263728/
  2. Tan EK, Lim EC. Glutathione synthetase deficiency. In: GeneReviews. 2002-2016 Jul 14. Seattle, WA [Updated 2018 Oct 4]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK9885/
  3. Glutathione synthetase deficiency. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency

Causes

The underlying cause of glutathione synthetase deficiency is a mutation in the GSS gene. This gene provides instructions for making an enzyme called glutathione synthetase, which is responsible for the production of glutathione in the body. Glutathione is an important antioxidant that helps protect cells from damage caused by unstable molecules known as free radicals.

Studies and articles published on PubMed and other scientific databases have provided more information about the genetic basis of this condition. The OMIM database, a catalog of human genes and genetic disorders, provides additional resources for learning about the genetic causes of glutathione synthetase deficiency.

Glutathione synthetase deficiency is considered a rare genetic disorder. The frequency of this condition is not well documented, but it is believed to be extremely rare. Inheritance of the condition can be either autosomal recessive or autosomal dominant, depending on the specific genetic mutation involved.

ClinicalTrials.gov, a resource center for information on clinical trials, provides information on ongoing research and clinical trials that may support the development of new treatments for glutathione synthetase deficiency.

Pyroglutamic acidemia is another genetic condition that is associated with glutathione synthetase deficiency. This condition is caused by a deficiency of another enzyme called 5-oxoprolinase. The GSS gene is also involved in the production of this enzyme.

Genetic testing is available for individuals suspected to have glutathione synthetase deficiency. This testing can help confirm a diagnosis and identify the specific genetic mutation responsible for the condition. Testing may also be available for other associated genes or conditions.

Patient advocacy organizations, such as the Genetic and Rare Diseases Information Center, can provide additional support and information for individuals and families affected by glutathione synthetase deficiency.

For more information about the causes and genetic basis of this condition, further research and scientific articles can be found in genetic and medical journals.

References:

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Learn more about the gene associated with Glutathione synthetase deficiency

Glutathione synthetase deficiency is a rare genetic condition that affects the production of a substance called glutathione. Glutathione is an important antioxidant that helps protect cells from damage caused by free radicals. It also plays a role in the detoxification of harmful substances in the body.

This condition is caused by mutations in the GSS gene, which provides instructions for making the enzyme glutathione synthetase. These mutations result in an unstable and non-functional enzyme, leading to reduced glutathione production and an increased risk of oxidative damage.

To learn more about the gene associated with Glutathione synthetase deficiency, you can visit the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic diseases and associated genes. You can find more information about the GSS gene in OMIM.
  • The PubMed database contains scientific research articles and citations on various topics, including the GSS gene and Glutathione synthetase deficiency.
  • Genetests.org is a comprehensive resource for genetic testing information. It provides testing and clinical information, including the clinical utility of testing for Glutathione synthetase deficiency.
  • Advocacy organizations such as the Glutathione synthetase Deficiency Association can provide support and information for patients and families affected by this condition.
  • ClinicalTrial.gov is a database that provides information about ongoing clinical trials related to Glutathione synthetase deficiency. These trials may offer new research and treatment options for the condition.
  • Scientific studies and articles published in peer-reviewed journals can provide additional information on the GSS gene and its role in Glutathione synthetase deficiency.

By learning more about the gene associated with Glutathione synthetase deficiency, you can better understand the causes and effects of this condition and explore potential treatments and support options.

Inheritance

Glutathione synthetase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner.

This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If an individual inherits only one copy of the mutated gene, they are considered a carrier of the condition but do not typically experience any symptoms.

Hemolytic anemia is a common feature of glutathione synthetase deficiency, with unstable red blood cells being destroyed prematurely, resulting in a low red blood cell count. The condition has been associated with mutations in the GSS gene.

The frequency of glutathione synthetase deficiency is not well established, but it is considered to be a rare condition. Mutations in the GSS gene are the main cause of the condition, although other genes may also be involved.

Testing for glutathione synthetase deficiency can be done through genetic testing, which looks for mutations in the GSS gene. It is important to note that not all individuals with mutations in the GSS gene will develop symptoms of the condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of inherited diseases and includes references to scientific research articles. Additional information about glutathione synthetase deficiency can be found on the OMIM entry for the condition.

The ClinicalTrials.gov website may also provide additional information on clinical studies and research studies that are investigating glutathione synthetase deficiency or related conditions. These studies may provide opportunities for patients to participate in research and support scientific advancements in understanding and treating the condition.

Advocacy organizations and patient support groups can also provide information and resources for individuals and families affected by glutathione synthetase deficiency. These organizations may offer support, education, and resources for individuals living with the condition.

Overall, glutathione synthetase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. It is associated with mutations in the GSS gene and can lead to hemolytic anemia and other associated symptoms. Genetic testing and support from advocacy organizations can help individuals and families affected by this condition.

Other Names for This Condition

Glutathione synthetase deficiency is also known by the following names:

  • Pyroglutamic synthetase deficiency
  • Glutathione synthase deficiency
  • GSS deficiency

This condition is associated with mutations in the GSS gene. Glutathione synthetase deficiency is a rare genetic disorder that affects the production of glutathione, a molecule that plays a critical role in protecting cells from damage caused by unstable molecules called free radicals. The GSS gene provides instructions for making an enzyme called glutathione synthetase, which is responsible for the production of glutathione.

Testing for glutathione synthetase deficiency can be done through genetic testing or enzyme analysis. The Glutathione Synthetase Deficiency Testing Center provides information on testing resources and clinical trials. Additional information about this condition can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed databases, as well as through articles and citation references from scientific research and advocacy organizations.

Glutathione synthetase deficiency causes a range of symptoms, including hemolytic anemia, increased susceptibility to infections, and neurological problems. The frequency of this condition is unknown. Inheritance of glutathione synthetase deficiency is autosomal recessive, meaning that both copies of the GSS gene in each cell have mutations.

Research studies are ongoing to learn more about the genetic causes and clinical features of glutathione synthetase deficiency. The Genetic and Rare Diseases Information Center (GARD) provides additional resources and support for patients and families affected by this condition.

Additional Information Resources

Glutathione synthetase deficiency is a rare genetic condition associated with unstable genes that cause the pyroglutamic acid to accumulate in the patient’s cells. This condition leads to hemolytic anemia and other clinical diseases.

If you would like to learn more about glutathione synthetase deficiency, the following resources can provide additional information:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the causes, inheritance, and associated clinical features of glutathione synthetase deficiency. You can access the OMIM catalog at https://omim.org/.
  • Gene Reviews: Gene Reviews is a comprehensive resource that offers detailed information on genetic conditions, including glutathione synthetase deficiency. Visit the Gene Reviews website to learn more about the genetic basis and clinical manifestations of this condition. Access Gene Reviews at https://www.ncbi.nlm.nih.gov/books/NBK52517/.
  • PubMed: PubMed is a valuable tool for accessing scientific studies and research articles related to glutathione synthetase deficiency. You can use PubMed to find studies, review articles, and clinical trial information. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetic Testing: If you suspect that you or a patient may have glutathione synthetase deficiency, genetic testing can help confirm the diagnosis. Consult with your healthcare provider or a genetics professional to discuss genetic testing options.
  • Patient advocacy groups: Patient advocacy organizations can provide support, information, and resources for individuals and families affected by glutathione synthetase deficiency. Connect with these organizations to access community support and learn more about the condition.
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Remember, additional information and resources can always be found through further research and exploration of the scientific and medical literature.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Glutathione Synthetase Deficiency, a rare metabolic disorder. By identifying the specific genetic mutations associated with the condition, testing can provide valuable information to patients and their healthcare providers.

Glutathione Synthetase Deficiency is a genetic disorder that affects the body’s ability to produce the enzyme glutathione synthetase. This enzyme is responsible for synthesizing glutathione, an important antioxidant that helps protect cells from oxidative damage. Without sufficient glutathione, individuals with this condition may experience a range of symptoms, including hemolytic anemia, neurological abnormalities, and other health issues.

Genetic testing can confirm a diagnosis of Glutathione Synthetase Deficiency by identifying mutations in the GSS gene, which provides instructions for making the glutathione synthetase enzyme. This testing can also determine the specific mutations present in an individual, which may help inform treatment options and disease management strategies.

There are different types of genetic tests available for Glutathione Synthetase Deficiency, including gene sequencing and mutation analysis. These tests can be done using a variety of samples, such as blood or saliva.

It is important to note that Glutathione Synthetase Deficiency is a rare condition, and genetic testing for this disorder may not be widely available. However, advances in genetic research and testing technologies have increased the accessibility of genetic testing for rare diseases like Glutathione Synthetase Deficiency.

Genetic testing may also provide information about the inheritance pattern of Glutathione Synthetase Deficiency. This condition is typically inherited in an autosomal recessive manner, which means that an affected individual has inherited two copies of the mutated gene, one from each parent.

Individuals and families affected by Glutathione Synthetase Deficiency can find resources and support through organizations dedicated to rare diseases. These organizations often provide information about genetic testing options, research studies, and clinical trials related to Glutathione Synthetase Deficiency.

Additional information and support can also be found through scientific journals, research articles, and online databases like OMIM. PubMed and ClinicalTrials.gov are valuable resources for accessing scientific studies, clinical trials, and genetic testing information related to Glutathione Synthetase Deficiency.

References:

  • National Center for Biotechnology Information. “GSS gene.” Gene:10781. https://www.ncbi.nlm.nih.gov/gene/10781
  • OMIM (Online Mendelian Inheritance in Man). “Glutathione Synthetase Deficiency.” http://omim.org/entry/266130
  • Genetic Testing Registry. “Glutathione Synthetase Deficiency.” https://www.ncbi.nlm.nih.gov/gtr/tests/31751/overview/
  • Glutathione Synthetase Deficiency Patient Advocacy & Support Resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about rare genetic diseases, including Glutathione Synthetase Deficiency. GARD is a valuable resource for patients, families, healthcare professionals, and researchers looking for scientific and clinical information about this condition.

Glutathione Synthetase Deficiency is a rare genetic condition that affects the stability of glutathione, an important molecule involved in cell protection. This condition is associated with a mutation in the GSS gene, which provides instructions for making the glutathione synthetase enzyme. Mutations in this gene can lead to a decrease or complete absence of functional enzyme, resulting in a shortage of glutathione in the cells.

Glutathione Synthetase Deficiency is inherited in an autosomal recessive manner, meaning that affected individuals have inherited two copies of the mutated gene, one from each parent. This condition is extremely rare, with only a few cases reported in the scientific literature. Its prevalence is unknown.

There is currently no cure for Glutathione Synthetase Deficiency, and treatment is mainly focused on managing symptoms and complications. This may include supportive care, such as blood transfusions for hemolytic anemia, and supplementation with oral or intravenous glutathione.

To learn more about Glutathione Synthetase Deficiency, you can visit the following resources:

  • Genetics Home Reference: Provides information about the GSS gene, inheritance, and additional resources for patients and families.
  • OMIM: A comprehensive catalog of human genes and genetic disorders. Includes information about Glutathione Synthetase Deficiency and related genes.
  • PubMed: Offers scientific articles and research studies on Glutathione Synthetase Deficiency.
  • ClinicalTrials.gov: Provides information on ongoing clinical trials and studies related to this condition.

Patients and families affected by Glutathione Synthetase Deficiency can also seek support and advocacy from organizations such as the Glutathione Synthetase Deficiency Foundation and the Genetic and Rare Diseases (GARD) Information Center. These organizations offer resources, patient stories, and support for individuals living with rare genetic diseases.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Glutathione Synthetase Deficiency, it is important to know that there are resources available to provide support and advocacy. Here are some organizations and websites that can offer assistance and valuable information:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about rare diseases, including Glutathione Synthetase Deficiency. They offer resources on genetic testing, inheritance patterns, and clinical studies. Visit their website at https://rarediseases.info.nih.gov/diseases/5407/glutathione-synthetase-deficiency.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a database that provides detailed information on genetic conditions. Their page on Glutathione Synthetase Deficiency includes references to scientific articles, genes associated with the condition, and inheritance patterns. Find more information at https://omim.org/entry/266130.
  • PubMed – PubMed is a valuable resource for finding scientific studies and articles related to Glutathione Synthetase Deficiency. You can search for publications on the condition, underlying causes, and potential treatments. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical studies and trials. By searching for “Glutathione Synthetase Deficiency,” you can find current research opportunities and potential treatment options. Explore ClinicalTrials.gov at https://www.clinicaltrials.gov.
  • Rare Diseases Catalog – The Rare Diseases Catalog offers a comprehensive list of rare diseases, including Glutathione Synthetase Deficiency. You can find information on symptoms, diagnosis, and available resources. Visit their website at https://rarediseases.org/rare-diseases.
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These resources can provide you with additional information about Glutathione Synthetase Deficiency, including genetic testing, clinical studies, and support networks. Remember to consult with healthcare professionals for personalized advice and guidance.

Research Studies from ClinicalTrialsgov

Research studies on glutathione synthetase deficiency (GSSD) and other associated diseases are being conducted to better understand this rare genetic condition and develop effective treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies, clinical trials, and patient advocacy organizations.

Here are some key resources and research studies related to glutathione synthetase deficiency:

  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information about ongoing and completed clinical trials related to GSSD and other genetic diseases. Researchers and patients can find details about the purpose, eligibility criteria, study locations, and contact information for participating in these trials. This resource is regularly updated with new studies and is a valuable tool for both patients and researchers.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about GSSD and its associated diseases. Researchers can find articles related to the genetics, inheritance patterns, causes, and clinical manifestations of GSSD. This resource is useful for staying updated with the latest research findings in the field.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information about the genetics, inheritance patterns, and clinical features of GSSD. Researchers and healthcare professionals can refer to OMIM for additional resources and references related to this condition.
  • Gene Testing: Genetic testing is an important tool for diagnosing GSSD and other genetic disorders. Through gene testing, researchers and clinicians can identify specific mutations in the glutathione synthetase gene, which can confirm a diagnosis. Gene testing is also essential for understanding the inheritance patterns associated with GSSD and providing accurate genetic counseling to affected individuals and their families.
  • Support and Advocacy: Patients and families affected by GSSD can find support and advocacy through patient advocacy organizations. These organizations provide resources, information, and support networks for individuals with GSSD and their families. They also play a crucial role in raising awareness about GSSD and advocating for research and funding for this rare genetic condition.

Research studies and clinical trials are ongoing to learn more about GSSD and develop effective treatments for this unstable condition. By utilizing resources like ClinicalTrials.gov, PubMed, OMIM, and gene testing, researchers and healthcare professionals can gather essential information to improve the understanding and management of GSSD.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides comprehensive information about various genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and patients seeking to learn more about genetic disorders and the genes associated with them.

Glutathione synthetase deficiency is one such genetic condition cataloged in OMIM. It is a rare inherited disorder characterized by the pyroglutamic acidemia, associated with hemolytic anemia.

The OMIM catalog provides detailed information about the genes and their associated diseases, including inheritance patterns, clinical features, laboratory testing, and more. It supports scientific research and advocacy efforts by providing a centralized repository of information on genetic disorders.

For each disease entry in OMIM, you can find the following information:

  1. Gene: The gene(s) associated with the condition.
  2. Disease name: The name of the condition.
  3. OMIM number: The unique identifier for the disease entry in OMIM.
  4. Description: A brief description of the condition.
  5. Inheritance: The pattern of inheritance for the condition (e.g., autosomal recessive, X-linked).
  6. Clinical features: The signs and symptoms associated with the condition.
  7. Laboratory testing: The recommended diagnostic tests for the condition.
  8. References: Scientific articles and other references that provide additional information about the condition.
  9. Frequency: The frequency of the condition in the population.
  10. Support and advocacy: Resources and support centers for patients and their families.
  11. Clinical trials: Information about ongoing clinical trials related to the condition.

By utilizing the information provided in the OMIM catalog, researchers, healthcare professionals, and patients can gain a better understanding of glutathione synthetase deficiency and other genetic diseases. It serves as a valuable tool for both clinical and research purposes.

To learn more about glutathione synthetase deficiency or other genetic conditions, you can visit the OMIM website or access the relevant publications through PubMed.

Scientific Articles on PubMed

Glutathione synthetase deficiency is a rare genetic condition that affects the synthesis of glutathione, a vital molecule for the cell’s defense against oxidative stress. This deficiency is often associated with hemolytic diseases and clinical symptoms of pyroglutamic acidemia.

Research on glutathione synthetase deficiency has led to numerous scientific articles published on PubMed, a comprehensive resource for biomedical literature. These articles provide valuable information about the causes, clinical presentation, and inheritance patterns of this condition. They also offer insights into potential treatment options and ongoing research studies.

The OMIM database, available through the National Center for Biotechnology Information (NCBI), offers additional resources and references for further learning. It provides detailed information about the genetic basis of glutathione synthetase deficiency, including gene names and associated diseases.

Patient advocacy groups and support organizations play a crucial role in raising awareness about the condition and providing assistance to affected individuals and their families. These organizations often collaborate with research institutions and contribute to clinical trials and studies aimed at improving the diagnosis and management of glutathione synthetase deficiency.

ClinicalTrials.gov, a database of clinical trials worldwide, lists ongoing and upcoming studies related to glutathione synthetase deficiency. These studies offer opportunities for patients and healthcare professionals to participate in research and contribute to the advancement of knowledge about this rare genetic disorder.

Overall, scientific articles on PubMed, along with the resources provided by OMIM, patient advocacy groups, and clinical trials, offer a wealth of information and support for individuals and families affected by glutathione synthetase deficiency. These valuable resources contribute to the understanding, diagnosis, and treatment of this condition, ultimately improving the lives of those living with this rare genetic disorder.

References