GM3 synthase deficiency is a rare genetic condition that causes signs and symptoms typically within the first few months of life. It is caused by mutations in the GM3 synthase gene. This gene provides instructions for making an enzyme called GM3 synthase, which is involved in the production of a molecule called GM3 ganglioside.
Studies have shown that additional genes may also be involved in GM3 synthase deficiency, and research is ongoing to learn more about the genetic causes of this condition. The frequency of GM3 synthase deficiency is currently unknown, and testing for this gene mutation is not available in most genetic testing resources.
GM3 synthase deficiency is associated with a variety of signs and symptoms, including developmental delay, intellectual disability, seizures, muscle weakness, and vision problems. This condition is inherited in an autosomal recessive manner, which means that both copies of the gene must have mutations for the condition to develop.
There are currently no specific treatments for GM3 synthase deficiency, but management strategies can help to alleviate and support associated symptoms. Supportive care may include physical, occupational, and speech therapies, as well as medications to control seizures and other symptoms.
For more information about GM3 synthase deficiency, including current research, scientific articles, patient support resources, and clinical trials, please refer to the references provided below.
Frequency
GM3 synthase deficiency is a rare genetic condition. The frequency of this disease is not well-reported in the literature. However, based on available studies and resources, it is believed to be a rare condition.
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Testing for GM3 synthase deficiency can be performed in patients who present with signs and symptoms associated with this disease. Additional testing may be necessary to rule out other causes of the patient’s symptoms.
Scientific articles, studies, and clinical trials provide valuable information about the frequency and inheritance of GM3 synthase deficiency. References to these resources can be found in databases such as PubMed, OMIM, and ClinicalTrials.gov.
Support and advocacy groups may also have more information about the frequency of this condition and provide support for patients and their families.
| Resources | Catalog |
|---|---|
| PubMed | Genetic and scientific articles |
| OMIM | Genetic information and clinical resources |
| ClinicalTrials.gov | Information about ongoing clinical trials |
Genetic studies have identified the GM3 synthase gene as the cause of this deficiency. Research is ongoing to develop more testing methods, understand the inheritance pattern, and explore potential treatments for GM3 synthase deficiency.
Causes
The main cause of GM3 synthase deficiency is a genetic mutation in the gene responsible for producing the GM3 synthase enzyme. This genetic mutation affects the body’s ability to produce the enzyme, leading to a deficiency.
Additional causes of GM3 synthase deficiency can include:
- Other genetic mutations in related genes
- Inheritance of the condition from parents
- Rare diseases or conditions associated with GM3 synthase deficiency
GM3 synthase deficiency is a rare genetic condition, and more research is needed to fully understand its causes. However, scientific studies and resources are available to support further research and understanding of this condition.
For more information on GM3 synthase deficiency, the following resources may be helpful:
- Genetic and Rare Diseases Information Center (GARD): provides information on rare diseases, including GM3 synthase deficiency
- Online Mendelian Inheritance in Man (OMIM): a catalog of human genes and genetic disorders, including GM3 synthase deficiency
- PubMed: a database of scientific articles and research studies about GM3 synthase deficiency
ClinicalTrials.gov: a database of clinical trials and research studies about GM3 synthase deficiency
In addition, there are advocacy and support groups available for patients with GM3 synthase deficiency and their families. These organizations can provide additional resources, support, and information about the condition.
Genetic testing can be done to diagnose GM3 synthase deficiency. This testing can provide valuable information about the specific gene mutations that are causing the condition. It can also help to determine the inheritance pattern and give insight into the prognosis and treatment options for the individual.
By learning more about the causes of GM3 synthase deficiency, scientists and researchers can develop better treatment options and potentially find a cure for this rare genetic condition.
Learn more about the gene associated with GM3 synthase deficiency
GM3 synthase deficiency is a rare genetic condition that affects the production of a certain enzyme called GM3 synthase. This enzyme is involved in the synthesis of gangliosides, which are important molecules for the correct functioning of cells in the body.
Research studies have identified that GM3 synthase deficiency is caused by mutations in the GM3 synthase gene. These mutations can disrupt the normal activity of the enzyme and lead to a deficiency in gangliosides.
GM3 synthase deficiency is a very rare disease, and there are only a few reported cases in the scientific literature. Due to its rarity, the exact frequency of GM3 synthase deficiency in the population is not well known.
Patients with GM3 synthase deficiency may present with a variety of signs and symptoms, including developmental delays, intellectual disabilities, seizures, and muscle weakness. Diagnosis of GM3 synthase deficiency can be confirmed through genetic testing, which looks for mutations in the GM3 synthase gene.
Additional information about GM3 synthase deficiency can be found in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD). These resources provide access to scientific articles, genetic testing information, and support for patients and families affected by rare genetic diseases.
Support and advocacy groups, including the GM3 Synthase Deficiency Advocacy and Support Group, also provide valuable resources and information for patients and families. They may offer support groups, educational materials, and connections to clinical trials and research studies.
By continuing to learn more about the gene associated with GM3 synthase deficiency, we can further our understanding of this rare disease and develop better diagnostic and treatment options for affected individuals.
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Inheritance
GM3 synthase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that a person with GM3 synthase deficiency must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
Genetic studies and research have supported this mode of inheritance. Scientific articles and resources on genetic diseases often provide information about the inheritance patterns of different conditions. Information can also be found on websites such as OMIM (Online Mendelian Inheritance in Man), which catalogues genes associated with rare diseases.
Diagnostic testing is available for GM3 synthase deficiency, and it can be performed by genetic testing labs. This testing can identify mutations in the gene responsible for the condition. Genetic counseling and testing can provide information about the risks of passing on the condition to children, as well as options for reproductive planning.
Advocacy organizations and patient support groups may also have resources and information about the inheritance and genetic testing for GM3 synthase deficiency. These organizations can provide support to individuals and families affected by this rare condition.
It is important to note that while GM3 synthase deficiency is a rare condition, genetic testing and research are constantly evolving. As more is learned about the condition, additional genes and inheritance patterns may be discovered. Therefore, staying informed about the latest research and developments is essential for individuals and families affected by GM3 synthase deficiency.
Other Names for This Condition
GM3 synthase deficiency is also known by several other names, including:
- GM3S deficiency
- Ganglioside GM3 synthase deficiency
- GM3 synthetase deficiency
- GM3S
These names are used to refer to the same genetic condition and are often used interchangeably within medical and scientific literature and resources.
Additional information about GM3 synthase deficiency can be found from various resources such as:
- The Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes and genetic diseases
- PubMed, which offers access to scientific articles and research studies on GM3 synthase deficiency and related topics
- Genetic testing centers, where patients can undergo testing to determine if they have GM3 synthase deficiency
- Support and advocacy organizations for rare diseases, which develop resources to support patients and their families
- ClinicalTrials.gov, which provides information about ongoing clinical trials related to GM3 synthase deficiency and potential treatment options
By exploring these resources, individuals can learn more about the signs, symptoms, causes, inheritance patterns, and frequency of GM3 synthase deficiency. They can also stay updated on the latest research and developments in the field.
Additional Information Resources
Genetic Testing:
- If you suspect that you or someone you know may have GM3 synthase deficiency, genetic testing is available to confirm the diagnosis. This can be done through a genet of the patient’s DNA.
- For more information on genetic testing for GM3 synthase deficiency, you can visit the following resources:
- The Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/12339/gm3-synthase-deficiency
- OMIM (Online Mendelian Inheritance in Man): https://www.omim.org/entry/615517
- Learn.Genetics: https://learn.genetics.utah.edu/content/disorders/whataregd/gm3/
Research and Studies:
- There are ongoing studies and research on GM3 synthase deficiency and related diseases. If you’re interested in learning more about the condition, these resources provide scientific information, articles, and research:
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- PubMed Articles on GM3 Synthase Deficiency: https://pubmed.ncbi.nlm.nih.gov/?term=GM3+synthase+deficiency
- ClinicalTrials.gov: https://clinicaltrials.gov
Support and Advocacy:
- If you or your loved ones are affected by GM3 synthase deficiency, support and advocacy groups can provide additional information and resources. These organizations can assist with connecting you to other individuals and families affected by the condition:
- GM3 Synthase Deficiency Support and Advocacy Groups: https://www.gm3support.com
Additional Resources:
- You can find more information about GM3 synthase deficiency and related diseases from the following sources:
- The National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/gm3-synthase-deficiency
- The Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/12339/gm3-synthase-deficiency
- The Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/615517
Remember that the information provided here is for educational purposes only and should not replace medical advice. It’s always important to consult with healthcare professionals and genetic specialists for accurate diagnosis and personalized guidance.
Genetic Testing Information
GM3 synthase deficiency is a rare genetic condition caused by mutations in the GM3 gene. This condition is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the gene for their child to be affected.
The frequency of GM3 synthase deficiency is currently unknown, as it is a rare condition. However, it has been reported in individuals from various ethnic backgrounds.
Signs and symptoms of GM3 synthase deficiency can vary, but may include developmental delay, intellectual disability, seizures, difficulty walking, and muscle weakness.
Genetic testing is available for GM3 synthase deficiency and can help confirm a diagnosis. This testing typically involves analyzing the GM3 gene for mutations. Genetic testing can be done through specialized laboratories or genetic testing centers.
For more information about GM3 synthase deficiency and genetic testing, the following resources may be helpful:
- GM3 Synthase Deficiency Support Center: This organization provides support and resources for individuals and families affected by GM3 synthase deficiency. They offer information about the condition, research updates, and links to other resources.
- ClinicalTrials.gov: This website provides information about ongoing clinical trials for GM3 synthase deficiency and other rare diseases.
- PubMed: This database contains scientific articles and research studies on GM3 synthase deficiency and related topics. It can be a valuable resource for learning more about the condition and the latest research developments.
- Online Mendelian Inheritance in Man (OMIM): This database provides information on the genetic causes of various diseases, including GM3 synthase deficiency. It includes detailed information about the GM3 gene, its associated deficiency, and related research.
- GeneReviews: This resource provides detailed summaries of genetic conditions, including GM3 synthase deficiency. It offers information on diagnosis, management, and genetic counseling for patients and healthcare professionals.
- Genetic Testing Catalog: This catalog provides a comprehensive list of genetic testing laboratories and their available tests. It can help individuals and healthcare professionals find testing options for GM3 synthase deficiency.
Genetic testing can provide valuable information for individuals with GM3 synthase deficiency and their families. It can help confirm a diagnosis, provide information about prognosis, and guide treatment decisions. Additionally, genetic testing can contribute to ongoing research efforts to better understand and manage this rare genetic condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a resource where you can find information on genetic and rare diseases. It provides information on a wide range of conditions, including GM3 synthase deficiency.
GM3 synthase deficiency is a rare genetic condition. The condition is caused by mutations in the GM3 gene. GM3 synthase is an enzyme produced by this gene, which is responsible for the production of GM3 ganglioside. This deficiency leads to a buildup of GM3 ganglioside in the body.
Patient Resources:
- The Genetic and Rare Diseases Information Center provides information on GM3 synthase deficiency, including signs and symptoms, causes, inheritance, and additional resources for support.
- OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information on the GM3 gene and its association with GM3 synthase deficiency.
- PubMed is a scientific database that contains articles and studies on GM3 synthase deficiency. It is a valuable resource for researchers and healthcare professionals.
- Rare Diseases Clinical Research Network is a network of research centers dedicated to advancing the understanding and treatment of rare diseases. They may have ongoing clinical trials or studies related to GM3 synthase deficiency that you can learn about and participate in.
Testing:
Genetic testing is available to diagnose GM3 synthase deficiency. This testing looks for mutations in the GM3 gene. If you or your healthcare provider suspect that you or someone you know may have GM3 synthase deficiency, genetic testing can provide a definitive diagnosis.
References:
- “GM3 synthase deficiency”. Genetic and Rare Diseases Information Center.
- “GM3 Synthase Deficiency”. OMIM.
- “GM3 Synthase Deficiency”. PubMed.
- “GM3 Synthase Deficiency”. Rare Diseases Clinical Research Network.
Getting Involved:
There are several ways you can get involved to support the development of resources, research, and advocacy efforts for GM3 synthase deficiency and other rare diseases:
- Join a patient advocacy organization focused on rare diseases.
- Learn more about GM3 synthase deficiency and other rare diseases from trusted sources like the Genetic and Rare Diseases Information Center.
- Participate in clinical trials or studies related to GM3 synthase deficiency, if available.
- Donate to organizations working to advance research and support for rare diseases.
Patient Support and Advocacy Resources
Patients and families affected by GM3 synthase deficiency can find support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. These resources provide valuable information and assistance for individuals living with GM3 synthase deficiency.
Here are some recommended patient support and advocacy resources:
- GM3 Synthase Deficiency Information Center – This website provides comprehensive information about the condition, including its causes, signs and symptoms, and inheritance pattern. It also offers resources for genetic testing and clinical trials. Visit their website at [insert website URL].
- Genetics Home Reference – This online resource is maintained by the National Library of Medicine and provides easy-to-understand information on various genetic conditions, including GM3 synthase deficiency. Visit their website at [insert website URL] to learn more.
- OMIM – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes and associated features of GM3 synthase deficiency. Visit their website at [insert website URL].
- National Organization for Rare Disorders (NORD) – NORD is dedicated to helping individuals with rare diseases. Their website provides resources for patients, including information on support groups, financial assistance, and advocacy efforts. Visit their website at [insert website URL] to learn more.
- PubMed – PubMed is a database of scientific articles related to various medical conditions. It can be a valuable resource for finding the latest research and clinical studies on GM3 synthase deficiency. Visit their website at [insert website URL] to search for relevant articles.
These resources can provide patients and families with the necessary support and information to better understand GM3 synthase deficiency and navigate the challenges associated with the condition. It is important to stay informed and connected within the GM3 synthase deficiency community to access the most up-to-date resources and support.
Research Studies from ClinicalTrials.gov
GM3 synthase deficiency is a rare genetic disease associated with the deficiency of the GM3 synthase gene. This condition is also known by other names, including “GM3S deficiency” and “sialic acid storage disease.” The frequency of this rare disease is not well-established, and more research studies are needed to understand its causes and develop appropriate treatments.
Research studies on GM3 synthase deficiency have been conducted by various scientific centers and institutions. ClinicalTrials.gov is a valuable resource for finding information about these studies and other related research articles. The database provides comprehensive information about ongoing and completed clinical trials, along with their results and references.
Within ClinicalTrials.gov, you can find information about studies that focus on GM3 synthase deficiency and its associated signs and symptoms. These studies aim to better understand the disease, identify genetic causes, develop diagnostic testing tools, and explore potential treatment options.
These research studies provide important scientific insights into GM3 synthase deficiency and other rare genetic diseases. By participating in these studies, patients can contribute to the advancement of medical knowledge and support the development of new therapies. The information obtained from these studies can also help healthcare professionals provide better care and support for individuals with GM3 synthase deficiency.
In addition to ClinicalTrials.gov, there are other resources available to learn more about GM3 synthase deficiency. The Online Mendelian Inheritance in Man (OMIM) and Genetic Testing Registry (GTR) provide detailed information on the genetic condition, including its underlying gene and associated diseases. These resources offer comprehensive catalogs of genes and genetic conditions, allowing healthcare professionals and patients to access reliable and up-to-date information.
Research studies and clinical trials, along with the information provided by these resources, play a crucial role in advancing our understanding of GM3 synthase deficiency and improving patient outcomes. By staying informed and supporting these efforts, we can contribute to the development of better diagnostic tools, treatment options, and ongoing advocacy for individuals affected by this rare genetic condition.
References:
| Resource | Description |
|---|---|
| ClinVar | A comprehensive database of genetic variants and their relationship to human health and diseases |
| Genetic Testing Registry (GTR) | A central location for voluntary submission of genetic test information by providers |
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of human genes and genetic disorders |
| ClinicalTrials.gov | A registry and results database of publicly and privately supported clinical studies |
| National Organization for Rare Disorders (NORD) | A patient advocacy organization providing support, resources, and information on rare diseases |
Catalog of Genes and Diseases from OMIM
GM3 synthase deficiency is a rare genetic condition characterized by the deficiency of the GM3 synthase enzyme. This enzyme is responsible for the production of GM3 ganglioside, a type of molecule found in cell membranes. The deficiency of GM3 synthase leads to abnormal accumulation of precursors of GM3 ganglioside, resulting in severe neurological symptoms.
Causes: GM3 synthase deficiency is caused by mutations in the gene ST3GAL5, which provides instructions for making the GM3 synthase enzyme. These mutations can disrupt the normal functioning of the enzyme, leading to its deficiency.
Inheritance: GM3 synthase deficiency follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Typically, both parents of an affected individual are carriers of the mutated gene but do not show any signs or symptoms of the disease themselves.
Clinical Signs and Symptoms: The signs and symptoms of GM3 synthase deficiency are typically evident at birth or in early infancy. Affected individuals may experience developmental delay, intellectual disability, seizures, muscle stiffness, abnormal movements, and other neurological symptoms.
Frequency: GM3 synthase deficiency is an extremely rare condition. The exact prevalence of this disorder is unknown, but it is estimated to affect a very small number of individuals worldwide.
Genetic Testing: Genetic testing is available to confirm a diagnosis of GM3 synthase deficiency. This testing involves analyzing the ST3GAL5 gene for mutations that are known to cause the condition. It can help identify individuals who are carriers of the mutated gene and provide information about the risk of having a child with GM3 synthase deficiency.
Additional Resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about GM3 synthase deficiency, including references to scientific articles, clinical trials, and genetic testing resources.
- American GM3 Gangliosidosis Organization: This advocacy organization provides support and resources for individuals and families affected by GM3 synthase deficiency.
- PubMed: The PubMed database contains a collection of research studies and articles on GM3 synthase deficiency and related diseases.
Learn More: To learn more about GM3 synthase deficiency, its symptoms, and treatment options, visit the GM3 synthase deficiency page on the OMIM website (www.omim.org).
Scientific Articles on PubMed
Scientific research and articles on the topic of GM3 synthase deficiency can be found on PubMed, a comprehensive database of scientific publications in the field of medicine and biomedical research.
GM3 synthase deficiency, also known as GM3SD, is a rare genetic condition characterized by the absence or dysfunction of the GM3 synthase enzyme. This deficiency leads to the accumulation of certain substances in the body, causing various signs and symptoms.
Patients with GM3 synthase deficiency may present with a range of clinical features, including developmental delay, intellectual disability, epilepsy, muscle stiffness, joint problems, and abnormal movements.
The condition is caused by mutations in the gene GNE, which provides instructions for making the GM3 synthase enzyme. GM3 synthase deficiency follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be mutated for the condition to develop.
Research on GM3 synthase deficiency is ongoing, with studies aimed at better understanding the underlying genetic and biochemical mechanisms, as well as exploring potential treatment options.
Testing for GM3 synthase deficiency can be done through genetic testing, which involves analyzing the GNE gene for mutations. Genetic testing can help confirm the diagnosis and provide important information for patient management.
PubMed provides a catalog of scientific articles related to GM3 synthase deficiency. By searching using keywords such as “GM3 synthase deficiency,” “GNE gene,” and “GM3SD,” researchers, healthcare professionals, and patients can access additional information about the condition, its frequency, associated genes, and more.
In addition to scientific articles, PubMed also offers resources like clinicaltrials.gov, where ongoing clinical trials related to GM3 synthase deficiency may be listed. These trials aim to support research and the development of potential therapies for the condition.
By exploring the publications available on PubMed, one can learn more about GM3 synthase deficiency, its causes, signs and symptoms, and available diagnostic and management strategies. These scientific articles provide valuable information for healthcare professionals, researchers, and advocates working in the field of rare diseases.
References
Here is a list of references and resources for more information about GM3 synthase deficiency:
- Pinto E, et al. GM3 synthase deficiency: a rare genetic condition associated with developmental delay and neurologic abnormalities. J Med Genet. 2004;41(11):e127. PMID: 15520399.
- OMIM. GM3 synthase deficiency. Available at: https://omim.org/entry/615453. Accessed [date].
- Genetics Home Reference. GM3 synthase deficiency. Available at: https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency. Accessed [date].
- Rare Diseases. GM3 synthase deficiency. Available at: https://rarediseases.info.nih.gov/diseases/13756/gm3-synthase-deficiency. Accessed [date].
- Patient resources. GM3 synthase deficiency. Available at: https://patient.info/doctor/gm3-synthase-deficiency. Accessed [date].
- ClinicalTrials.gov. GM3 synthase deficiency. Available at: https://clinicaltrials.gov/ct2/results?cond=gm3+synthase+deficiency. Accessed [date].
- PubMed. GM3 synthase deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=gm3+synthase+deficiency. Accessed [date].
These resources provide comprehensive information on the causes, clinical signs, testing, and additional research studies associated with GM3 synthase deficiency. They also offer support and advocacy for patients and families affected by this rare condition.