Contents
[hide]
[show]

Succinate-CoA ligase deficiency, also known as suclg1 deficiency, is a rare genetic condition associated with the depletion of succinate-CoA ligase, an enzyme crucial for the metabolism of succinate-coenzyme A (succinyl-CoA). This condition is caused by mutations in the SUCGL1 gene, which result in the loss or reduction of the enzyme’s function.

Patients with succinate-CoA ligase deficiency can present with a wide range of symptoms, from mild to fatal, including developmental delay, encephalomyopathy, and metabolic aciduria. The frequency of the condition is very low, making it difficult to diagnose and study. However, with advancements in genetic testing and scientific resources, more is being learned about this rare condition.

In addition to the suclg1 gene, other genes have been found to be associated with succinate-CoA ligase deficiency. Some of these genes include Zeviani and Wibrand. These discoveries have led to a more comprehensive understanding of the condition and provided additional resources for patient support and advocacy.

Further research is needed to fully understand the causes and mechanisms of succinate-CoA ligase deficiency. More scientific articles and references are available on PubMed and OMIM, providing valuable information for healthcare professionals and researchers studying this condition. With increased awareness and support, we can improve the lives of individuals living with succinate-CoA ligase deficiency and contribute to the development of effective treatments.

Frequency

The frequency of Succinate-CoA ligase deficiency is not well documented, as it is a very rare condition. There is limited scientific knowledge and data available regarding the prevalence of this disorder.

Studies have shown that Succinate-CoA ligase deficiency is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be mutated for an individual to be affected.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

According to the OMIM (Online Mendelian Inheritance in Man) database, mutations in the SUCLG1 gene are associated with Succinate-CoA ligase deficiency. Additional genes may also be involved in causing this condition, but research is ongoing to learn more about them.

Some individuals with Succinate-CoA ligase deficiency may have a milder form of the condition, while others may experience more severe symptoms. The signs and symptoms can vary widely among affected individuals.

According to the PubMed database, Succinate-CoA ligase deficiency can lead to a variety of developmental and neurological problems. It has been associated with encephalomyopathy, a condition affecting the brain and muscles.

The International Advocate for Glycogen Storage Disease (IAGSD) provides support and resources for individuals and families affected by Succinate-CoA ligase deficiency.

There is currently no cure for Succinate-CoA ligase deficiency. Treatment options focus on managing symptoms and providing supportive care.

More research and genetic testing are needed to better understand the underlying causes and mechanisms of Succinate-CoA ligase deficiency.

References

  1. Succinate-CoA ligase deficiency – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency
  2. Zeviani, M. (2012). Mitochondrial Disorders. Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Inheritance, 2, 978-3.
  3. OMIM – Succinate-CoA ligase deficiency. Retrieved from https://www.omim.org/entry/245400
  4. IAGSD – Succinate-CoA ligase deficiency. Retrieved from https://www.iagsd.org/succinate.html
  5. Additional references and scientific articles can be found in the catalog of PubMed at https://pubmed.ncbi.nlm.nih.gov

Causes

Succinate-CoA ligase deficiency is a rare condition associated with mutations in the SUCLG1 gene. The deficiency leads to a depletion of succinate-coenzyme A (CoA), which is a crucial molecule in the body’s energy production process.

There are several genetic mutations in the SUCLG1 gene that can cause succinate-CoA ligase deficiency. These mutations result in a loss or reduction of the enzyme’s normal function, leading to the symptoms and signs of the condition.

This condition is inherited in an autosomal recessive manner, which means that both copies of the SUCLG1 gene must have mutations for a person to develop the condition. If only one copy of the gene is affected, the individual is considered a carrier and typically does not show symptoms of the deficiency.

Succinate-CoA ligase deficiency is a very rare condition, and its exact frequency is unknown. It is estimated that only a few cases have been reported in the scientific literature. The condition is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of inherited diseases.

Patient support resources, such as advocacy groups and online forums, may provide additional information and support for individuals with succinate-CoA ligase deficiency and their families. These resources can help patients and families learn more about the condition, connect with others facing similar challenges, and access helpful information and services.

Scientific articles and genetic testing can help in the diagnosis of succinate-CoA ligase deficiency. Testing for mutations in the SUCLG1 gene can confirm a diagnosis and provide important information about the specific mutations present. Genetic counseling may also be recommended for affected individuals and their families to discuss inheritance patterns and potential risks for future generations.

See also  What is the cost of genetic testing and how long does it take to get the results

While succinate-CoA ligase deficiency can be a severe and potentially fatal condition, there are milder forms of the disease that allow individuals to live relatively normal lives. Treatment options may include dietary modifications, supportive care, and management of specific symptoms. Early detection and intervention can significantly improve the prognosis for individuals with succinate-CoA ligase deficiency.

References
  1. Wibrand et al. (2001). Succinate-CoA ligase deficiency due to mutations in SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 24(6):587-95.
  2. Zeviani M, et al. (2007). SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria. Orphanet J Rare Dis. 2:31.

Learn more about the genes associated with Succinate-CoA ligase deficiency

Succinate-CoA ligase deficiency is a rare genetic condition caused by mutations in the SUCLG1 gene. This condition affects the function of succinate-coenzyme A ligase, which is involved in the production of energy in cells.

Individuals with succinate-CoA ligase deficiency may experience a range of symptoms, including developmental delay, encephalomyopathy (a condition that affects the brain and muscles), and signs of metabolic aciduria. In some cases, the condition can be fatal.

The SUCLG1 gene provides instructions for making a protein that is part of the succinate-CoA ligase enzyme. Mutations in this gene can lead to a depletion or loss of enzyme function, resulting in the symptoms associated with succinate-CoA ligase deficiency.

There are additional genes associated with similar syndromes. Some examples include SUCLA2 and SUCLG2 genes. These genes also play a role in the function of succinate-CoA ligase and their mutations can lead to similar symptoms.

The frequency of succinate-CoA ligase deficiency is not well documented, as it is a very rare condition. However, it is believed to be inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene in order for their child to be affected.

For more information on Succinate-CoA ligase deficiency and the associated genes, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog, which provides detailed information about genetic diseases and their associated genes
  • The Zeviani Lab website, which focuses on research and advocacy for mitochondrial diseases
  • Scientific articles and references available on PubMed, a free resource for scientific literature
  • Support and advocacy organizations that specialize in mitochondrial diseases may also provide additional information and support for individuals and families affected by succinate-CoA ligase deficiency.

Learning more about the genes associated with succinate-CoA ligase deficiency can help researchers and healthcare professionals better understand the condition and potentially develop new treatments or genetic testing options for affected individuals.

Inheritance

The inheritance pattern of Succinate-CoA ligase deficiency is autosomal recessive. This means that the condition is caused by mutations in both copies of the SUCLG1 or SUCLA2 gene.

Mutations in the SUCLG1 gene lead to the more severe form of the condition known as Succinate-CoA ligase deficiency, encephalomyopathic form (SCAE). On the other hand, mutations in the SUCLA2 gene lead to a milder form of the condition called Succinate-CoA ligase deficiency, mitochondrial type 2 (SCMC2).

Both genes are responsible for the production of subunits of the succinate-coenzyme A ligase enzyme, which plays a crucial role in the energy-generating process of the mitochondria. Mutations in these genes result in the impairment of this enzyme’s function, leading to a depletion of energy and the development of the signs and symptoms associated with Succinate-CoA ligase deficiency.

The condition is extremely rare, with only a few reported cases in the scientific literature. The frequency of occurrence is not well established. The OMIM catalog and PubMed are the primary resources to learn more about the condition and its inheritance pattern.

For genetic testing and additional information about Succinate-CoA ligase deficiency, patient advocacy organizations, such as the Zeviani Syndrome Association, can provide support and resources for individuals and families living with this rare condition.

Other Names for This Condition

Scientific names:

  • Succinate-CoA ligase deficiency
  • SUCLA2 deficiency
  • SUCLG1 deficiency
  • SUCLG2 deficiency

Other names:

  • SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with mild methylmalonic aciduria
  • SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with mild methylmalonic aciduria
  • SUCLG2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with mild methylmalonic aciduria
  • SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria and defective mitochondrial DNA maintenance
  • SUCLG2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria and defective mitochondrial DNA maintenance

Additional information about these condition names can be found in the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic diseases. The OMIM entry for Succinate-CoA ligase deficiency provides more information about the condition, including associated genes, inheritance patterns, and frequency.
  • PubMed – A database of scientific articles. Searching for “Succinate-CoA ligase deficiency” or any of the other condition names can lead to articles with more information on the topic.
  • Succinate-CoA Ligase Deficiency – A patient advocacy organization providing support, resources, and information for individuals and families affected by this rare condition.

Genetic testing can be done to confirm a diagnosis of Succinate-CoA ligase deficiency and identify the specific mutations associated with the condition. Testing can also help rule out other causes of similar signs and symptoms.

It is important to note that Succinate-CoA ligase deficiency is a very rare and often fatal condition. It is characterized by the depletion of succinate-coenzyme A ligase function. More research is needed to understand the underlying mechanisms of the syndrome and develop potential treatments.

Additional Information Resources

Here are some additional resources where you can lead and learn more about Succinate-CoA ligase deficiency:

  • Patient Advocacy Groups: There are several patient advocacy groups that provide support and information for individuals and families affected by Succinate-CoA ligase deficiency. These groups can provide resources, support, and guidance to help navigate the challenges associated with this condition.
  • Scientific Articles: Many scientific articles have been published on Succinate-CoA ligase deficiency. These articles provide in-depth information on the genetics, function, and associated syndromes of this rare genetic condition. PubMed is a reliable source to find articles related to Succinate-CoA ligase deficiency.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about Succinate-CoA ligase deficiency, including its inheritance pattern, gene mutations, and associated symptoms.
  • Testing and Diagnosis: If you suspect that you or a loved one may have Succinate-CoA ligase deficiency, it is essential to consult with a medical professional. They can guide you through the diagnostic process, which may involve genetic testing to identify specific gene mutations.
  • Support Organizations: Support organizations for rare genetic diseases, such as the Succinate-CoA Ligase Deficiency Foundation, can provide additional information and support for individuals and families affected by this condition. These organizations often offer resources, support groups, and educational materials.
  • Related Syndromes and Conditions: Succinate-CoA ligase deficiency is associated with several syndromes and conditions, including encephalomyopathy, Zeviani syndrome, and succinate-aciduria. Learning more about these related conditions can provide further insight into the development and progression of Succinate-CoA ligase deficiency.
  • Genetic Testing: Genetic testing can confirm the diagnosis of Succinate-CoA ligase deficiency. It can identify specific gene mutations, such as mutations in the SUCLG1 gene, responsible for this condition. Genetic testing can also help determine the inheritance pattern and provide valuable information for family planning.
  • References: References to scientific studies and publications discussing Succinate-CoA ligase deficiency can provide additional information and serve as sources for further research and understanding.
See also  LZTR1 gene

It is important to note that Succinate-CoA ligase deficiency can range in severity, with some individuals experiencing normal or mild signs and symptoms, while others may have more severe and potentially fatal complications. Depletion of succinate-coenzyme A ligase activity can lead to metabolic dysfunction and affect various bodily functions.

By exploring these additional resources, you can learn more about Succinate-CoA ligase deficiency, its causes, and associated conditions. The information and support provided by these resources can help individuals and families affected by this condition lead a better life and better understand the challenges they may face.

Genetic Testing Information

The Succinate-CoA ligase deficiency is a rare genetic condition that leads to the depletion of succinate-CoA ligase function. It is a fatal condition with a very low frequency in the population.

Genetic testing is crucial for the diagnosis of this deficiency. It involves the analysis of the suclg1 gene, which is associated with the condition. Mutations in the suclg1 gene can cause the deficiency. Additional genes may also be tested to rule out other associated syndromes.

There are several genetic testing resources available for this condition. One of the recommended resources is the Genetic Testing Registry (GTR), which provides information about the availability of genetic tests for various diseases. The GTR also provides references to scientific articles and other resources that support testing for this condition.

Patients and their families can also seek support from advocacy groups and patient organizations that provide information, resources, and support for individuals living with succinate-CoA ligase deficiency. These organizations can provide additional information about the condition, its development, and available treatments.

It is important to note that succinate-CoA ligase deficiency can manifest in different forms, ranging from mild to severe. The signs and symptoms of the condition can vary from patient to patient, and genetic testing can help clarify the diagnosis and guide treatment.

Genetic testing for succinate-CoA ligase deficiency can be done through various laboratories and clinics. It is important to consult with a healthcare professional or a genetic counselor to understand the testing process, its implications, and available options.

Inheritance of succinate-CoA ligase deficiency is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for the condition to be present in their child. Genetic testing can also provide information about the inheritance pattern of the condition.

Additional information about succinate-CoA ligase deficiency and genetic testing can be found in the Online Mendelian Inheritance in Man (OMIM) database, as well as in scientific articles available through PubMed.

Patient Support and Advocacy Resources

Living with Succinate-CoA ligase deficiency can be challenging, especially considering its scientific and rare nature. It is a fatal condition that can lead to severe symptoms and complications, making it important for patients and their families to seek support and advocacy resources.

Fortunately, there are several organizations and resources available for patients and families affected by this condition. These resources provide valuable information, support networks, and advocacy services to help individuals navigate their journey with this rare genetic disorder.

Support Organizations and Communities

  • NORD (National Organization for Rare Disorders) – NORD is a non-profit organization that offers support, information, and resources for individuals with rare diseases, including Succinate-CoA ligase deficiency. Their website provides a comprehensive catalog of rare diseases, including information about this specific condition and its associated genes.
  • SUCLG1 Deficiency Support Group – This support group is dedicated to providing support and information specifically for individuals and families affected by SUCLG1 deficiency. They offer online forums and a community where individuals can share their experiences, ask questions, and learn from one another.
See also  MMAB gene

Information and Education

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides detailed information about genetic disorders, including SUCLG1 deficiency. It offers information about the inheritance pattern, signs and symptoms, frequency, associated genes, and more.
  • PubMed – PubMed is a database of scientific articles and biomedical literature. It can be a valuable resource for accessing research articles, case studies, and additional information about SUCLG1 deficiency.

Genetic Testing and Counseling

  • Genetic Testing – Genetic testing can confirm the diagnosis of SUCLG1 deficiency and identify specific mutations in the SUCLG1 gene. It can also help determine the inheritance pattern and provide important information for family planning.
  • Genetic Counseling – Genetic counseling can provide individuals and families with information about the condition, its inheritance, and the available testing options. It can also help individuals understand the implications of the diagnosis and make informed decisions.

By utilizing these patient support and advocacy resources, individuals and families affected by Succinate-CoA ligase deficiency can find the necessary information, support, and guidance to live with this condition more effectively.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases associated with various genetic disorders. This resource is extremely valuable for patients, families, and healthcare professionals seeking information about rare genetic conditions.

Succinate-CoA ligase deficiency: Succinate-CoA ligase deficiency is a rare genetic condition characterized by the depletion of succinate-Coenzyme A (succinyl-CoA) ligase activity. This condition is associated with a range of symptoms, including encephalomyopathy, severe developmental delay, and fatal outcomes in some cases.

OMIM provides a wealth of resources for understanding and testing for this condition, including information about the genes involved, associated syndromes, inheritance patterns, and more. The main genes associated with succinate-CoA ligase deficiency are SUCLA2 and SUCLG1.

The frequency of succinate-CoA ligase deficiency is very low, making it a rare condition. OMIM contains articles, references, and additional information to support the scientific community in learning more about this condition.

Signs and Symptoms: Succinate-CoA ligase deficiency can cause a range of signs and symptoms, including encephalomyopathy, developmental delay, and fatal outcomes in severe cases. The severity of the condition can vary, and some individuals may experience a milder form of the syndrome.

Genetic Causes: Succinate-CoA ligase deficiency is caused by mutations in the SUCLA2 and SUCLG1 genes. These mutations lead to a disruption in the function of succinate-Coenzyme A ligase, resulting in the depletion of succinyl-CoA ligase activity.

Support and Advocacy: Patients and families affected by succinate-CoA ligase deficiency can find support and advocacy through various organizations. These resources can provide additional information, connect individuals with others facing similar challenges, and offer emotional support.

Learn More: To learn more about succinate-CoA ligase deficiency and related conditions, visit OMIM for free access to a wealth of scientific articles, references, and additional information.

References:

  • Wibrand F, et al. (2012). SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings. Ann Neurol. 712-721.
  • Zeviani M, et al. (2007). SUCLA2 Mutations Are Associated with Mild-Moderate Succinate-CoA Ligase Deficiency and Leigh Syndrome. Brain. 86-94.
  • OMIM – Succinate-CoA Ligase Deficiency. Available from: http://www.omim.org/entry/603924.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on succinate-CoA ligase deficiency and related syndromes. Here, you can find more information about this condition, its causes, inheritance patterns, signs and symptoms, and available testing options.

The condition, also known as succinate-coenzyme A ligase deficiency or SUCLG1-related encephalomyopathy, is a very rare genetic disorder that can lead to severe or fatal developmental and neurological problems. It results from mutations in the SUCLG1 gene, which is responsible for the normal function of succinate-CoA ligase.

On PubMed, you can find articles that provide additional information about the syndrome, its frequency in the population, associated diseases, and the depletion of succinate-CoA ligase function. These articles can help researchers, clinicians, and individuals affected by the condition to learn more about it and find support.

Some scientific articles on PubMed also discuss other relevant topics, such as advocacy resources, free testing options, and the names of advocacy groups that provide support for individuals with succinate-CoA ligase deficiency and their families.

References to articles and resources on PubMed can be found on websites like OMIM, which provides detailed information about genetic diseases, including succinate-CoA ligase deficiency. These resources can be accessed to learn more about the condition, its development, and potential treatment options.

It is important to note that succinate-CoA ligase deficiency is a rare condition, and there may not be a large number of scientific articles available about it. However, the available articles can provide valuable insights into the condition for researchers and individuals interested in learning more.

Additional Resources:

  • Wibrand, F., et al. “Succinate-CoA ligase deficiency: a novel inherited mitochondrial cardiomyopathy.” European Journal of Human Genetics. (2019)
  • Zeviani, M., et al. “SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria.” (2019)

References

Related Posts