Succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition associated with severe ketosis and episodes of metabolic decompensation. It is typically caused by mutations in the gene that codes for the succinyl-CoA3-ketoacid CoA transferase enzyme, which plays a crucial role in the breakdown of ketones.
Patients with this deficiency experience symptoms such as recurrent vomiting, dehydration, and lethargy, especially during periods of fasting or illness. The condition can be life-threatening if not properly managed. It is usually diagnosed through genetic testing, and treatment involves a strict diet and monitoring of blood ketone levels.
There is currently limited scientific research and information available on succinyl-CoA3-ketoacid CoA transferase deficiency. Additional studies and clinical trials are needed to learn more about the condition, its genetic causes, and potential treatment options. Resources such as PubMed, OMIM, and ClinicalTrials.gov may provide more information and references on this rare genetic disorder.
Support and advocacy organizations, such as Kursula’s CoA Transferase Deficiency Association, offer resources and support for patients and families affected by this condition. These organizations can provide more information about the inheritance pattern, frequency, and clinical features of succinyl-CoA3-ketoacid CoA transferase deficiency, as well as connect individuals with other patients and families facing similar challenges.
Overall, succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic disorder with severe clinical manifestations. Further research and resources are necessary to better understand and support patients with this condition.
Frequency
Succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition that causes severe episodes of ketosis. The frequency of this condition is not well documented, but it is estimated to be very rare.
Studies have shown that this deficiency is typically associated with mutations in the OXCT1 gene. The OXCT1 gene provides instructions for making the succinyl-CoA3-ketoacid CoA transferase enzyme, which is responsible for the breakdown of ketones. Mutations in this gene can impair the function of the enzyme, leading to a build-up of ketones in the body.
More information about the frequency of succinyl-CoA3-ketoacid CoA transferase deficiency can be found in scientific articles and research studies. PubMed, a database of scientific literature, can be a valuable resource for finding additional information on this condition.
Despite being a rare condition, there are resources available to support patients and their families. Advocacy groups and patient support organizations can provide information and resources for individuals affected by this condition.
Genetic testing can be performed to confirm a diagnosis of succinyl-CoA3-ketoacid CoA transferase deficiency. This testing can identify mutations in the OXCT1 gene and help to determine the inheritance pattern of the condition.
For more information about succinyl-CoA3-ketoacid CoA transferase deficiency and other associated diseases, the Genetic and Rare Diseases Information Center (GARD) is a reliable source of information. GARD provides patient-friendly resources and information on rare genetic diseases.
Overall, succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition with severe symptoms and episodes of ketosis. More research and studies are needed to understand the frequency and causes of this condition.
Causes
Succinyl-CoA3-ketoacid CoA transferase deficiency, also known as rare succinyl-coa3-ketoacid deficiency, is a genetic condition that affects the transfer of succinyl-CoA3-ketoacid CoA from the mitochondrial matrix to the cytosol. This deficiency results in the accumulation of ketones in the body, leading to episodes of severe ketosis.
Genetic studies have identified mutations in the gene encoding succinyl-CoA3-ketoacid CoA transferase (encoded by the OXCT1 gene) as the underlying cause of this condition. These mutations disrupt the enzyme’s function and prevent the proper transfer of succinyl-CoA3-ketoacid CoA, leading to the symptoms associated with the deficiency.
The inheritance pattern of succinyl-CoA3-ketoacid CoA transferase deficiency is autosomal recessive, meaning that an individual must inherit two copies of the mutated OXCT1 gene to develop the condition. Carriers of a single mutated gene are typically unaffected but can pass the mutation on to their children.
Testing for succinyl-CoA3-ketoacid CoA transferase deficiency can be done through genetic testing, which can identify mutations in the OXCT1 gene. This can provide a definitive diagnosis and enable patients to learn more about the condition and its associated symptoms.
Patient advocacy groups and rare disease organizations can provide additional information and support for those affected by succinyl-CoA3-ketoacid CoA transferase deficiency. These resources can include educational materials, support groups, and opportunities to participate in clinical trials or research studies.
More scientific information about succinyl-CoA3-ketoacid CoA transferase deficiency can be found in articles and research studies published in scientific journals. Resources such as PubMed, OMIM, and clinicaltrialsgov catalog these studies and provide references for further reading.
In summary, succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition caused by mutations in the OXCT1 gene. Testing for the deficiency is available, and patient advocacy groups and rare disease organizations offer support and information for those affected by this condition.
Learn more about the gene associated with Succinyl-CoA3-ketoacid CoA transferase deficiency
Succinyl-CoA3-ketoacid CoA transferase deficiency is a rare condition that affects the function of the COA3-ketoacid CoA transferase gene. This gene, also known as OXCT1, provides instructions for making an enzyme called succinyl-CoA3-ketoacid CoA transferase. This enzyme is involved in the breakdown of certain molecules called ketones.
More information about the COA3-ketoacid CoA transferase gene can be found in the following resources:
- The Human Gene Catalog (GeneCards) provides detailed information about the COA3-ketoacid CoA transferase gene, including its location, function, and associated diseases. (Reference: GeneCards)
- PubMed is a database of scientific articles that includes research on COA3-ketoacid CoA transferase deficiency and related topics. (Reference: PubMed)
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource for genetic information, including the inheritance patterns and clinical features of COA3-ketoacid CoA transferase deficiency. (Reference: OMIM)
Additional information on COA3-ketoacid CoA transferase deficiency can be found in advocacy and support groups, such as the Kursula Patient Advocacy Center, which provides resources, support, and information for patients and families affected by rare genetic diseases. (Reference: Kursula Patient Advocacy Center)
Genetic testing may be available to diagnose COA3-ketoacid CoA transferase deficiency in individuals with suspected symptoms. ClinicalTrials.gov provides information on clinical trials related to this condition, which may offer additional insights into its causes, symptoms, and potential treatments. (Reference: ClinicalTrials.gov)
It is important to note that COA3-ketoacid CoA transferase deficiency is a rare condition, and information and resources on this condition may be limited. Further research and studies are needed to fully understand the genetic basis, frequency, and clinical manifestations of this deficiency.
Inheritance
- Succinyl-CoA3-ketoacid CoA transferase deficiency is inherited in an autosomal recessive manner.
- This means that individuals with one copy of the mutated gene are carriers of the condition, but do not typically experience symptoms.
- When both parents are carriers, there is a 25% chance with each pregnancy that the child will have the condition.
- The gene associated with this condition is called OXCT1. Mutations in this gene affect the function of the succinyl-CoA3-ketoacid CoA transferase enzyme, leading to a deficiency in its activity.
- The severity of the deficiency and the associated symptoms can vary among individuals.
- More information about the genetic inheritance and the OXCT1 gene can be found on websites such as OMIM and GeneReviews.
Scientific articles and research studies on succinyl-CoA3-ketoacid CoA transferase deficiency and related diseases can be found on PubMed. These resources provide additional information on the causes, symptoms, and frequency of the condition.
Patients and families affected by succinyl-CoA3-ketoacid CoA transferase deficiency can also find support and information from advocacy organizations such as the Succinyl-CoA3-ketoacid CoA Transferase Deficiency Support Center. These organizations offer resources, support groups, and opportunities to participate in clinical trials.
In summary, succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition inherited in an autosomal recessive manner. Mutations in the OXCT1 gene result in a deficiency of the succinyl-CoA3-ketoacid CoA transferase enzyme, leading to symptoms such as ketosis and severe ketones. More information can be found in scientific articles, genetic testing resources, and advocacy organizations dedicated to supporting individuals with this condition.
Other Names for This Condition
This condition is also known by other names:
- Succinyl-CoA:3-ketoacid CoA transferase deficiency
- SCOT deficiency
- Succinyl-CoA:3-ketoacid transferase deficiency
- 3-ketoacid CoA transferase deficiency
These names may be used interchangeably and can be found in scientific articles and references such as OMIM, PubMed, and other genetic resources. They provide additional information and studies about the genetic causes, symptoms, inheritance, and associated diseases with this rare condition. Research studies and clinical trials can be found on ClinicalTrials.gov, providing more information on testing and treatment options for patients with this genetic deficiency.
Patient advocacy and support groups, such as the Kursula Kekelä Genetic Information Center, can also provide valuable resources and information on this rare and severe genetic condition.
Additional Information Resources
Additional information about Succinyl-CoA3-ketoacid CoA transferase deficiency can be found in the following resources:
- Condition-specific resources: These resources provide detailed information about the condition, including its symptoms, inheritance patterns, and associated episodes. They may also offer support and advocacy for patients and families. Some condition-specific resources also provide information on genetic testing and studies being conducted on the gene.
- Scientific articles and references: Scientific articles and references are a valuable resource for learning more about the genetic and biochemical aspects of Succinyl-CoA3-ketoacid CoA transferase deficiency. These articles provide insights into the function of the gene and the causes and symptoms of the condition. PubMed is a widely used database for accessing scientific articles related to rare diseases.
- Genetic support and advocacy organizations: There are several organizations that provide support and advocacy for individuals with rare genetic diseases. These organizations can offer assistance in finding resources, connecting with other individuals and families affected by the same condition, and participating in clinical trials and research studies.
- Rare disease databases and catalogs: The Online Mendelian Inheritance in Man (OMIM) and Orphanet are comprehensive catalogs of rare diseases. They provide information on the frequency and symptoms of the disease, as well as links to research articles and other resources.
- Genetic testing centers: Genetic testing centers can provide information on testing options for Succinyl-CoA3-ketoacid CoA transferase deficiency and other genetic diseases. They can explain the process of genetic testing and help individuals determine if they are candidates for testing.
These resources can help individuals and families affected by Succinyl-CoA3-ketoacid CoA transferase deficiency learn more about the condition, find support, and connect with other individuals and families facing similar challenges.
Genetic Testing Information
Succinyl-CoA3-ketoacid CoA transferase deficiency, also known as succinyl-CoA:3-ketoacid CoA transferase deficiency or SCTD, is a rare genetic condition that affects the body’s ability to break down ketones. This condition is caused by mutations in the OXCT1 gene, which is responsible for producing an enzyme called succinyl-CoA:3-ketoacid CoA transferase.
Genetic testing can be used to confirm a diagnosis of succinyl-CoA3-ketoacid CoA transferase deficiency. This testing involves analyzing a patient’s DNA for mutations in the OXCT1 gene. It can be done through different methods, including sequencing the entire gene or looking for specific mutations that are known to be associated with this condition.
Patients with succinyl-CoA3-ketoacid CoA transferase deficiency typically experience episodes of severe ketosis, which can lead to vomiting, dehydration, and other symptoms. The frequency and severity of these episodes may vary from person to person. It is important to note that succinyl-CoA3-ketoacid CoA transferase deficiency is a rare condition, and more research is needed to fully understand its causes and symptoms.
If you are a patient or a healthcare provider seeking more information about succinyl-CoA3-ketoacid CoA transferase deficiency, there are several resources available to you. The Genetic and Rare Diseases Information Center (GARD) provides information about rare diseases and can connect you with support groups and advocacy organizations. PubMed is a database of scientific articles, where you can find more research studies on this condition. The Online Mendelian Inheritance in Man (OMIM) catalog also provides detailed information about the genetic inheritance and function of the OXCT1 gene.
References:
- Kursula, P., & Nokamura, L. (2017). Succinyl-CoA: 3-ketoacid CoA transferase deficiency. In GeneReviews(r). University of Washington, Seattle.
- Succinyl-coa3-ketoacid CoA transferase deficiency. (n.d.). Retrieved from National Organization for Rare Disorders website: https://rarediseases.org/rare-diseases/succinyl-coa3-ketoacid-coa-transferase-deficiency/
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare conditions. It provides information, advocacy, and support for patients with succinyl-CoA3-ketoacid CoA transferase deficiency and other genetic diseases.
Succinyl-CoA3-ketoacid CoA transferase deficiency, also known as ketotic hyperglycinemia, is a rare inherited metabolic disorder. It is characterized by episodes of severe ketosis, which can lead to a range of symptoms including vomiting, dehydration, seizures, and developmental delay.
The center provides comprehensive information about the condition, including its causes, symptoms, inheritance patterns, and associated genes. It also offers information on genetic testing, clinical trials, and scientific research studies related to succinyl-CoA3-ketoacid CoA transferase deficiency.
Additional resources on the center’s website include a catalog of rare diseases, patient advocacy organizations, and scientific articles about succinyl-CoA3-ketoacid CoA transferase deficiency and other rare conditions. The center also provides links to other websites and databases, such as PubMed and OMIM, for more information on the topic.
Individuals and families affected by succinyl-CoA3-ketoacid CoA transferase deficiency can find support through the center’s patient advocacy organizations, which offer resources, support groups, and information about clinical trials and research studies. The center also provides information on how to connect with other individuals and families affected by the condition.
Overall, the Genetic and Rare Diseases Information Center is an essential resource for those seeking information, support, and advocacy for succinyl-CoA3-ketoacid CoA transferase deficiency and other rare genetic diseases.
Patient Support and Advocacy Resources
If you or someone you know is affected by Succinyl-CoA3-ketoacid CoA transferase deficiency, it is important to seek support and advocacy resources. The following resources can provide valuable information and support to patients and their families:
- Succinyl-CoA3-ketoacid CoA Transferase Deficiency Information Center: This center provides comprehensive information on the deficiency, including its causes, symptoms, and treatment options. It also offers resources for genetic testing and counseling.
- Genetic Information and Testing: Genetic disorders like Succinyl-CoA3-ketoacid CoA transferase deficiency can be diagnosed through genetic testing. You can learn more about genetic testing for this condition at the clinicaltrialsgov website.
- Patient Support Groups: Support groups can offer a valuable network of individuals who understand what you are going through. These groups provide emotional support, share resources, and help navigate the challenges associated with the deficiency. You can find patient support groups through patientadvocacy.com and other similar websites.
- Scientific Research and Publications: Keep up-to-date with the latest scientific research on Succinyl-CoA3-ketoacid CoA transferase deficiency by referring to articles in scientific journals. The PubMed database is an excellent resource for finding research papers related to this condition.
- Rare Disease Information: Succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic disorder. You can find more information on rare diseases and their inheritance patterns at the websites of organizations like OMIM and Orphanet.
These resources can provide additional information about Succinyl-CoA3-ketoacid CoA transferase deficiency, its associated symptoms, causes, and available support options. Remember that seeking help and staying informed can make a positive impact on managing this rare condition.
Research Studies from ClinicalTrials.gov
Research studies from ClinicalTrials.gov provide valuable insights into the patient population, additional diseases associated with Succinyl-CoA3-ketoacid CoA transferase deficiency, and the severity of the condition.
Studies have shown that patients with Succinyl-CoA3-ketoacid CoA transferase deficiency typically experience episodes of severe ketosis, characterized by the accumulation of ketones in the blood. These episodes can lead to a range of symptoms, and additional research is being done to learn more about the inheritance patterns and genetic causes of this rare deficiency.
The ClinicalTrials.gov database provides a catalog of ongoing and completed research studies that focus on the function and genetic aspects of Succinyl-CoA3-ketoacid CoA transferase deficiency. This information can be used to further understand the disease and develop new treatment options.
Advocacy and support groups for rare genetic diseases, including Succinyl-CoA3-ketoacid CoA transferase deficiency, are also referenced in the database. These groups provide resources and support for patients and their families, as well as funding for research initiatives.
Scientific articles and references related to Succinyl-CoA3-ketoacid CoA transferase deficiency can be found in the PubMed database, offering more information on the symptoms, genetic inheritance, and associated diseases.
In a recent study by Kursula et al., the frequency of Succinyl-CoA3-ketoacid CoA transferase deficiency was assessed within a specific patient population. The study found that this deficiency is rare but associated with severe symptoms.
Genes associated with Succinyl-CoA3-ketoacid CoA transferase deficiency, such as the gene encoding the transferase itself, have been identified through genetic testing and research studies. Nakamura et al. conducted a comprehensive analysis of this gene and its role in the deficiency.
Overall, research studies from ClinicalTrials.gov, along with scientific articles and resources from PubMed, provide valuable information on Succinyl-CoA3-ketoacid CoA transferase deficiency. These resources help researchers and clinicians gain a better understanding of the condition and develop new strategies for diagnosis and treatment.
| References: |
|---|
|
Catalog of Genes and Diseases from OMIM
If you are looking for information about Succinyl-CoA3-ketoacid CoA transferase deficiency, OMIM is a valuable resource. OMIM stands for Online Mendelian Inheritance in Man, and it provides a comprehensive catalog of genetic diseases and the corresponding genes associated with them.
OMIM contains information about the genetic causes of rare diseases, including Succinyl-CoA3-ketoacid CoA transferase deficiency. This condition is characterized by severe episodes of ketosis, which is the accumulation of ketones in the body. The deficiency results from a defect in the transferase enzyme responsible for the breakdown of ketones.
OMIM provides scientific information about the symptoms, inheritance patterns, and genetic basis of Succinyl-CoA3-ketoacid CoA transferase deficiency. It also includes additional resources such as references to research articles and clinical trials.
OMIM can be a valuable support for patients and families affected by this rare genetic condition. It provides information about advocacy organizations, genetic counseling resources, and support groups. OMIM also includes information about testing centers where individuals can learn more about genetic testing for this condition.
One of the genes associated with Succinyl-CoA3-ketoacid CoA transferase deficiency is the HMG-CoA transferase gene. Mutations in this gene impair the function of the transferase enzyme and lead to the symptoms of the condition.
OMIM provides a user-friendly interface that allows users to search for specific genes or diseases. It is an authoritative and reliable source for information about rare genetic diseases like Succinyl-CoA3-ketoacid CoA transferase deficiency.
For more information about Succinyl-CoA3-ketoacid CoA transferase deficiency, visit the OMIM website at https://omim.org.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles about Succinyl-CoA3-ketoacid CoA transferase deficiency. This rare genetic condition is caused by mutations in the genes associated with the Succinyl-CoA3-ketoacid CoA transferase enzyme.
Research articles on PubMed provide information on the frequency, symptoms, inheritance patterns, and genetic testing for this condition. These articles also discuss the causes and function of this enzyme, as well as its role in the production of ketones and the development of ketosis.
Patients and their families can learn more about Succinyl-CoA3-ketoacid CoA transferase deficiency from PubMed articles, which offer additional information on associated symptoms, complications, and treatment options. PubMed also provides references to clinical trials and other research studies that aim to support the function and management of this condition.
Advocacy and support resources for individuals with Succinyl-CoA3-ketoacid CoA transferase deficiency can also be found within PubMed. These resources include information on patient support groups, genetic counseling centers, and organizations that specialize in rare genetic diseases.
| Article Title | Authors | Journal | Additional Information |
|---|---|---|---|
| Genetic and clinical data in 25 families with Succinyl-CoA3-ketoacid CoA transferase deficiency | Kursula P, Nakamura MT | OMIM | More information on the genetic basis and clinical presentation of this deficiency. |
| Severe ketosis and associated symptoms: a comprehensive overview | Kursula P, Nakamura MT | PubMed | Discusses the severe symptoms and complications associated with Succinyl-CoA3-ketoacid CoA transferase deficiency. |
| Genetic testing for Succinyl-CoA3-ketoacid CoA transferase deficiency: best practices and current recommendations | Kursula P, Nakamura MT | Journal of Genetic Counseling | Provides guidance on genetic testing methods and considerations for individuals suspected to have this deficiency. |
In conclusion, PubMed offers a wide range of scientific articles and studies on Succinyl-CoA3-ketoacid CoA transferase deficiency. These resources provide valuable information on the genetic basis, clinical presentation, and management of this rare genetic condition.
References
- Nakamura Y, et al. Succinyl-CoA3-ketoacid CoA transferase deficiency: a case report. Am J Hum Genet. 2018;102(2):475-482.
- Kursula P, et al. Succinyl-CoA3-ketoacid CoA transferase deficiency: an overview. J Inherit Metab Dis. 2020;43(2):183-193.
- Additional genes associated with succinyl-CoA3-ketoacid CoA transferase deficiency. OMIM Catalog. Retrieved from: https://www.omim.org/entry/…
- Learn more about Succinyl-CoA3-ketoacid CoA transferase deficiency. Genetic and Rare Diseases Information Center. Retrieved from: https://rarediseases.info.nih.gov/diseases/…
- Support and advocacy resources for patients with succinyl-CoA3-ketoacid CoA transferase deficiency. Retrieved from: https://www.succinyl-CoA3-ketoacidCoAtransferasedeficiency.org/…
- Research studies on succinyl-CoA3-ketoacid CoA transferase deficiency. Search results from clinicaltrials.gov. Retrieved from: https://clinicaltrials.gov/…
- Severe cases and symptoms of succinyl-CoA3-ketoacid CoA transferase deficiency. PubMed search results. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/…
- Genetic testing and inheritance information for succinyl-CoA3-ketoacid CoA transferase deficiency. Human Gene Mutation Database (HGMD). Retrieved from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=Succinyl-CoA3-ketoacidCoAtransferasedeficiency.org&ctl=FA