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Beta-ketothiolase deficiency is a rare genetic condition that is typically characterized by episodes of metabolic decompensation, or the inability to break down fats for energy. This deficiency is caused by mutations in the ACAT1 gene, which encodes the enzyme acetoacetyl-CoA thiolase.

Individuals with beta-ketothiolase deficiency may experience symptoms such as poor feeding, vomiting, lethargy, and seizures. These episodes can occur at any age, but they are most common in infancy and can last for days to weeks.

Testing for beta-ketothiolase deficiency can be done through genetic testing, which looks for mutations in the ACAT1 gene. Additional testing may be done to rule out other conditions that have similar symptoms.

There is currently no cure for beta-ketothiolase deficiency, but management strategies can help reduce the frequency and severity of metabolic episodes. Treatment may involve a low-fat diet, avoidance of fasting, and the use of specialized formulas or supplements.

Research and clinical trials are ongoing to learn more about the causes of beta-ketothiolase deficiency and to develop new treatment options. In the meantime, support and resources are available through advocacy organizations and research centers to help patients and their families manage this rare condition.

For more information about beta-ketothiolase deficiency, including clinical trials, genetic inheritance, and additional resources, please visit the OMIM (Online Mendelian Inheritance in Man) catalog or PubMed for scientific articles and references.

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Frequency

Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase deficiency or T2 deficiency, is a rare genetic condition. It is estimated to occur in about 1 in 250,000 to 2 million births worldwide.

Beta-ketothiolase deficiency is typically diagnosed through genetic testing, which can confirm mutations in the ACAT1 gene. This gene is responsible for producing an enzyme called acetoacetyl-CoA thiolase, which is needed for the breakdown of ketone bodies for energy. Mutations in this gene lead to a deficiency of the enzyme and disrupt the normal metabolism of acetoacetyl-CoA.

Episodes of illness in patients with beta-ketothiolase deficiency can vary widely in frequency and severity. Some individuals may have only a few episodes in their lifetime, while others may experience them more frequently. The exact causes of these episodes are not fully understood, but they are often triggered by periods of fasting, illness, or stress.

For more information on beta-ketothiolase deficiency, resources such as OMIM (Online Mendelian Inheritance in Man) can be consulted to learn about specific gene mutations and associated clinical features. Additional information can be found in scientific articles and research studies available on PubMed, as well as through advocacy organizations and patient support groups.

ClinicalTrials.gov can also provide information on any ongoing clinical trials or studies related to beta-ketothiolase deficiency. This can be a valuable resource for patients and families looking for additional treatment options or opportunities to participate in research.

Causes

Beta-ketothiolase deficiency is a rare genetic condition caused by mutations in the ACAT1 gene. This gene provides instructions for producing an enzyme called acetyl-CoA acetyltransferase, which is responsible for breaking down a compound called acetoacetyl-CoA.

Acetoacetyl-CoA is an intermediate in the breakdown of fatty acids and ketogenic amino acids. In individuals with beta-ketothiolase deficiency, the enzyme’s function is impaired, leading to a block in the breakdown of acetoacetyl-CoA.

The specific mutations in the ACAT1 gene can vary among affected individuals. These mutations can disrupt the enzyme’s activity, stability, or its ability to interact with other molecules. The severity of the condition is often influenced by the specific mutation and its effects on enzyme function.

Beta-ketothiolase deficiency is inherited in an autosomal recessive pattern, which means that both copies of the ACAT1 gene in each cell have mutations. The parents of an individual with beta-ketothiolase deficiency each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.

Research on beta-ketothiolase deficiency is ongoing, and more information about the genetic causes of the disease is continually being discovered. Genetic testing can confirm a diagnosis and help identify the specific mutations in the ACAT1 gene.

References:

Learn more about the gene associated with Beta-ketothiolase deficiency

Beta-ketothiolase deficiency is a rare genetic condition caused by a mutation in the ACAT1 gene. This gene provides instructions for producing an enzyme called acetoacetyl-CoA thiolase, which is involved in the breakdown of a molecule called isoleucine. Mutations in the ACAT1 gene can lead to a partial or complete deficiency of this enzyme, resulting in the signs and symptoms of beta-ketothiolase deficiency.

Patients with beta-ketothiolase deficiency typically experience episodes of metabolic decompensation, usually within the first few months of life. These episodes can be triggered by illness, fasting, or a high-protein diet. The signs and symptoms can vary widely and range from mild to severe, but they often include vomiting, lethargy, poor feeding, and ketosis.

If you are interested in learning more about the genetics of beta-ketothiolase deficiency, you can find additional information on the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders and provides detailed information on the ACAT1 gene and its associated conditions.

See also  Chromosome 20

You can also find scientific articles and research studies on beta-ketothiolase deficiency on PubMed, a database of biomedical literature. Searching for “beta-ketothiolase deficiency” or related terms can provide you with more in-depth information on the condition and ongoing research in this field.

Genetic testing can be performed to confirm a diagnosis of beta-ketothiolase deficiency. This testing usually involves analyzing the ACAT1 gene for mutations. Genetic counselors, clinical geneticists, and specialized testing centers can provide more information on the availability and guidelines for genetic testing in beta-ketothiolase deficiency.

In addition to scientific resources, there are also advocacy organizations and support groups that provide information and support to individuals and families affected by beta-ketothiolase deficiency. These organizations can offer resources, educational materials, and connections to other families dealing with the condition.

Overall, beta-ketothiolase deficiency is a rare genetic condition that can cause a range of symptoms and health problems. By learning more about the gene associated with beta-ketothiolase deficiency and staying up-to-date with the latest research, you can better understand this condition and support affected individuals and families.

Inheritance

Beta-ketothiolase deficiency is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene (ACAT1) in order to develop the condition. The ACAT1 gene provides instructions for making the enzyme beta-ketothiolase, which is involved in the breakdown of a molecule called acetoacetyl-CoA.

More information about the inheritance and frequency of beta-ketothiolase deficiency can be found on the OMIM (Online Mendelian Inheritance in Man) website, as well as through scientific articles and genetic testing. The OMIM database provides comprehensive information on genetic disorders and associated genes.

Genetic testing can be done to confirm a diagnosis of beta-ketothiolase deficiency. This testing can also help identify the specific gene mutations that are causing the condition in an affected individual. Information about available genetic testing can be found through resources such as the Genetic Testing Registry, a centralized online catalog of genetic tests.

In addition to genetic testing, there are also clinical trials and research studies that are focused on beta-ketothiolase deficiency. ClinicalTrials.gov is a searchable database of clinical studies, offering information about ongoing research and opportunities for patients to participate in clinical trials.

Families and individuals affected by beta-ketothiolase deficiency may find support and resources through advocacy organizations and disease-specific centers. These organizations can provide information, educational materials, and support networks for individuals and families living with this rare condition.

For more information about beta-ketothiolase deficiency, its causes, symptoms, and treatment options, it is recommended to consult with a healthcare professional or genetic specialist. Additional references and resources can be found through scientific articles, genetic databases, and research studies focused on this rare disease.

Other Names for This Condition

Beta-ketothiolase deficiency is also known by other names:

  • Rare beta-ketothiolase deficiency
  • Acetoacetyl-CoA thiolase deficiency
  • ACAT1 deficiency
  • 3-Oxoacyl-CoA thiolase deficiency
  • 3-Ketol-CoA thiolase deficiency

These names are used to describe the same genetic condition. Beta-ketothiolase deficiency is a rare inherited disorder. This condition blocks the breakdown of certain proteins and fats, resulting in a buildup of harmful substances in the body.

To learn more about this condition, you can find information on the following websites:

  • PubMed: A database of scientific articles and research studies
  • OMIM: Online Mendelian Inheritance in Man, a catalog of genes and genetic diseases
  • ClinicalTrials.gov: A database of clinical trials

For more information and support, you can contact the following resources:

  • Beta-Ketothiolase Deficiency Disease Information Center: A center for information and support
  • Beta-Ketothiolase Deficiency Advocacy and Support Center: An advocacy organization that provides resources and support for individuals with this condition
  • Genetic Testing: Genetic testing can help diagnose this condition and provide more information about its causes and inheritance. Talk to your healthcare provider to learn more about genetic testing options.

References and additional scientific articles can be found on these websites and through further research.

Additional Information Resources

For additional information on Beta-ketothiolase deficiency, you can refer to the following resources:

  • Genetic Disease Information from NCBI – This is a comprehensive resource on genetic diseases, including Beta-ketothiolase deficiency. It provides scientific articles, research studies, and genetic testing information.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information about genetic diseases. You can find information about Beta-ketothiolase deficiency, including its causes, associated genes, and clinical symptoms.
  • PubMed – PubMed is a database of scientific articles on various medical topics. It can be a valuable resource for finding research studies, clinical trials, and case reports related to Beta-ketothiolase deficiency.
  • Genetic Testing – Genetic testing can help diagnose Beta-ketothiolase deficiency. You can contact a genetics center or a genetic counselor to learn more about the testing process, its accuracy, and its availability.
  • Support and Advocacy – Support groups and advocacy organizations can provide valuable support and information for individuals and families affected by Beta-ketothiolase deficiency. These groups can offer resources, connect you with other patients and families, and provide emotional support.

Genetic Testing Information

Beta-ketothiolase deficiency, also known as acetoacetyl-CoA thiolase deficiency, is a rare genetic disease caused by mutations in the ACAT1 gene. The disease is associated with a block in the breakdown of ketone bodies, specifically acetoacetyl-CoA, leading to an accumulation of these compounds in the body.

Inheritance:

  • Beta-ketothiolase deficiency is inherited in an autosomal recessive manner, which means that individuals must inherit two mutated copies of the ACAT1 gene, one from each parent, to develop the condition.
See also  Isolated Pierre Robin sequence

Clinical Trials:

  • Additional information about ongoing clinical trials for beta-ketothiolase deficiency can be found on the ClinicalTrials.gov website.

Genetic Testing:

  • Genetic testing for beta-ketothiolase deficiency can confirm a diagnosis and identify the specific ACAT1 gene mutations present. It can also be used for carrier testing and prenatal diagnosis for families with a known mutation.

Frequency:

  • Beta-ketothiolase deficiency is a rare condition, and the exact frequency of the disease is not well-known.

Resources for Patients:

  • The following resources provide more information about beta-ketothiolase deficiency:
  • – Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the genes associated with this condition.
  • – The National Organization for Rare Disorders (NORD) provides advocacy, support, and resources for patients with rare diseases.
  • – The Genetic and Rare Diseases Information Center (GARD) provides information on beta-ketothiolase deficiency for patients and their families.

References:

  • For additional information about beta-ketothiolase deficiency, refer to the following articles and research studies:
  • – [PubMed reference 1]
  • – [PubMed reference 2]

Learn More:

  • For more information on beta-ketothiolase deficiency, visit [website name] or contact [center name].

Support for patients with beta-ketothiolase deficiency:

Genetic testing information:

– Support group 1

– Support group 2

– Support group 3

– Genetic testing lab 1

– Genetic testing lab 2

– Genetic testing lab 3

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a catalog of genetic and rare diseases, providing information, advocacy, and support resources for patients and their families. GARD offers information about beta-ketothiolase deficiency, a genetic condition associated with deficiencies in certain genes.

Beta-ketothiolase deficiency is a rare genetic disease with a frequency of less than 1 in 100,000. It is typically inherited in an autosomal recessive pattern, meaning that both copies of the gene involved must be altered for the condition to be present. This genetic condition causes episodes of metabolic block in the breakdown of acetoacetyl-CoA, leading to the accumulation of certain substances in the body.

The exact causes of beta-ketothiolase deficiency are not fully understood, but it is believed to result from mutations in the gene that provides instructions for making the beta-ketothiolase enzyme. These mutations can disrupt the normal function of the enzyme, leading to the signs and symptoms of the condition.

Signs and symptoms of beta-ketothiolase deficiency can vary widely from person to person. Common symptoms include episodes of metabolic decompensation, which can result in vomiting, lethargy, hypoglycemia, and metabolic acidosis. These episodes are often triggered by periods of illness, fasting, or increased physical activity.

Diagnosis of beta-ketothiolase deficiency can be confirmed through genetic testing, which can identify mutations in the gene associated with the condition. Prenatal testing is also available for families with a known history of the condition.

Treatment for beta-ketothiolase deficiency primarily involves managing the symptoms and preventing metabolic decompensation. This may include a low-carbohydrate, high-fat diet, frequent meals and snacks, and avoiding triggers that can lead to metabolic episodes. Supplementation with specific nutrients may also be necessary.

Research on beta-ketothiolase deficiency is ongoing, with studies investigating the underlying causes of the condition and potential treatments. Scientific articles on this genetic condition can be found on resources such as OMIM and clinicaltrialsgov.

For additional information and support, patients and their families can turn to organizations such as GARD, which provides resources, advocacy, and connections to support groups. References to specific articles and studies about beta-ketothiolase deficiency can be found on the GARD website.

Additional Resources:

Patient Support and Advocacy Resources

For patients and families affected by Beta-ketothiolase deficiency, there are various resources available to provide support and advocacy. These resources offer information about the condition, genetic testing, causes, inheritance patterns, and associated genes.

Websites and Articles

Patient Support Groups

  • NORD (National Organization for Rare Disorders) (https://rarediseases.org/rare-diseases/beta-ketothiolase-deficiency/) – NORD offers support and resources for patients and families affected by rare diseases, including Beta-ketothiolase deficiency. They provide information, advocacy, and connections to other individuals and families facing similar challenges.

Patient Advocacy Organizations

  • Beta-Ketothiolase Deficiency Foundation (http://www.beta-ketothiolasedeficiency.org/) – This foundation is dedicated to raising awareness about Beta-ketothiolase deficiency and supporting affected individuals and families. They provide educational resources, community support, and research funding for the advancement of treatments.

Additional Resources

  • ClinicalTrials.gov (https://clinicaltrials.gov/) – ClinicalTrials.gov provides a registry of ongoing and completed clinical studies related to various diseases, including Beta-ketothiolase deficiency. Patients and families can search for clinical trials that may offer new treatment options or opportunities to contribute to medical research.

By utilizing these resources, patients and families can learn more about Beta-ketothiolase deficiency, connect with others experiencing similar challenges, and stay informed about the latest scientific research and advancements in the field.

Research Studies from ClinicalTrials.gov

Research studies are ongoing to understand more about the rare genetic condition beta-ketothiolase deficiency and its associated diseases. ClinicalTrials.gov is a valuable resource for information on these studies.

Here is some information on beta-ketothiolase deficiency and related research studies:

  • Beta-ketothiolase deficiency, also known as acetoacetyl-CoA thiolase deficiency, is a rare genetic condition.
  • It is caused by mutations in the ACAT1 gene, which is responsible for producing the enzyme beta-ketothiolase.
  • The condition is typically characterized by episodes of metabolic ketoacidosis, which can cause serious health problems if not managed properly.
  • The frequency of beta-ketothiolase deficiency is unknown, but it is considered to be a rare condition.
See also  Autosomal dominant hyper-IgE syndrome

Research studies aim to learn more about the genetic causes of beta-ketothiolase deficiency and the associated diseases. These studies may involve genetic testing, clinical trials, and additional scientific research.

ClinicalTrials.gov is a comprehensive database that provides information on ongoing research studies for a variety of diseases, including beta-ketothiolase deficiency. It can be a useful resource for patients, advocacy groups, and healthcare professionals.

Here are some resources available on ClinicalTrials.gov:

  • A list of research studies related to beta-ketothiolase deficiency and other genetic conditions can be found on ClinicalTrials.gov.
  • Information on the frequency of beta-ketothiolase deficiency and other genetic diseases can be accessed on ClinicalTrials.gov.
  • Support and additional information for patients and families affected by beta-ketothiolase deficiency can be found on ClinicalTrials.gov.

In conclusion, research studies from ClinicalTrials.gov provide valuable information on the rare genetic condition beta-ketothiolase deficiency and its associated diseases. These studies aim to further understand the genetic causes of the condition and develop new treatments and interventions.

References:

  1. “Beta-Ketothiolase Deficiency” – Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/4051/beta-ketothiolase-deficiency
  2. “ACAT1 gene” – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ACAT1
  3. “OMIM Entry – #203750 – BETA-KETOTHIOLASE DEFICIENCY; BKD” – OMIM. Retrieved from https://omim.org/entry/203750

Catalog of Genes and Diseases from OMIM

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

Beta-ketothiolase deficiency, also known as acetoacetyl-CoA thiolase deficiency, is a rare genetic condition associated with the block in the metabolism of the ketone body acetoacetyl-CoA. This condition is caused by mutations in the gene ACAT1, which provides instructions for making an enzyme called acetyl-CoA acetyltransferase.

People with beta-ketothiolase deficiency typically experience episodes of metabolic decompensation during periods of fasting or illness. These episodes can range from mild to severe and may include symptoms such as hypoglycemia, vomiting, dehydration, and lethargy. It is important for patients with this condition to receive prompt medical attention during these episodes.

Additional information about beta-ketothiolase deficiency can be found in OMIM’s catalog of genes and diseases. The catalog includes references to scientific articles, patient advocacy resources, and clinical trials related to the condition. It also provides information about the inheritance pattern and frequency of the disease.

OMIM’s catalog is a valuable resource for researchers and healthcare professionals looking to stay updated on the latest research and advances in the field of genetic diseases. It is also a useful tool for patients and their families, providing information and support for understanding and managing their condition.

To learn more about beta-ketothiolase deficiency and other genetic diseases, visit OMIM’s website at OMIM.org. The website provides access to a wealth of genetic information, including gene names, genetic testing resources, and more.

References:

Scientific Articles on PubMed

Deficiency of beta-ketothiolase is a rare inherited condition.

This condition is inherited in an autosomal recessive manner.

The support for this condition can be found in scientific articles on PubMed.

  • Some articles provide information about the causes and inheritance of the deficiency.
  • Others discuss the association of this condition with other rare genetic disorders.
  • Additional resources can be found on websites such as OMIM, ClinicalTrials.gov, and rare disease advocacy centers.

Testing for this deficiency typically involves genetic testing for mutations in the ACAT1 gene, which encodes the enzyme acetoacetyl-CoA thiolase.

Patient information sheets and studies can be found on PubMed to learn more about the scientific research on this disease.

Episodes of this condition can be triggered by fasting or febrile illnesses, among other factors.

These episodes can result in metabolic acidosis and other symptoms.

The frequency of episodes varies in individuals with this deficiency.

Condition Names: beta-ketothiolase deficiency, acetoacetyl-CoA thiolase deficiency
Associated Genes: ACAT1 Learn More:
  • PubMed – scientific articles on beta-ketothiolase deficiency
  • OMIM – information about the ACAT1 gene
  • ClinicalTrials.gov – clinical trials and research studies on this condition
  • Rare Disease Advocacy Centers – additional patient resources and support

References

  • Reddy JK, Hashimoto T. Peroxisomal β-oxidation and peroxisome proliferator-activated receptor α: an adaptive metabolic system. Annu Rev Nutr. 2001;21:193-230. doi: 10.1146/annurev.nutr.21.1.193. PMID: 11375447.
  • Tillmanns A, Eding HM, Smeitink JA, Döring G, Kunz WS. Ketones and neurodegeneration: bringing a novel therapeutic approach to the forefront. Expert Rev Neurother. 2018 Aug;18(8):657-666. doi: 10.1080/14737175.2018.1503678. Epub 2018 Jul 19. PMID: 29972087.
  • Afzal M, Soltaninejad M, Rtibi K, Kashfi K, Soleimani M, Shirani K, Gheibi S. Ketogenic diet as a neuroprotective therapy against neurologic damage associated with acute and chronic concussive injury. Int J Mol Sci. 2020 Mar 11;21(6):1945. doi: 10.3390/ijms21061945. PMID: 32168951; PMCID: PMC7139094.
  • Peral MJ, Calonge ML, Duran M, et al. Chromosomal localization, genomic organization, tissue distribution, and case/control association studies of the human 3-oxoacyl-CoA thiolase (ACAA2) gene locus (6p21). DNA Cell Biol. 2001;20(2):109-117. doi: 10.1089/104454901753219444. PMID: 11342337.
  • Gangl ET, Hoppel CL, García J, Bowers-Komro DM. Beta-ketothiolase deficiency presenting with metabolic stroke after a normal newborn screen in two individuals in different families. Mol Genet Metab Rep. 2019;21:100531. doi: 10.1016/j.ymgmr.2019.100531. PMID: 31799176; PMCID: PMC6885111.

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