The ACAT1 gene, also known as the acetoacetyl-CoA thiolase gene, is a genetic variant that plays a key role in the breakdown of certain fats in the body. This gene is listed in the scientific databases and genetic testing resources as a known cause of deficiency in acetoacetyl-CoA thiolase, a condition that can lead to a range of health problems and diseases.

Deficiency in acetoacetyl-CoA thiolase can result in episodes of low blood sugar, known as hypoglycemia, as well as other metabolic abnormalities. The ACAT1 gene is responsible for producing the enzyme that is used in the final steps of the breakdown process for fats, known as ketone bodies. Changes in this gene can impair the function of the enzyme and lead to a buildup of these ketone bodies, causing various health issues.

Further information and references on this genetic variant can be found in scientific articles and resources such as PubMed and OMIM. Additional information and testing resources for this gene and related conditions can be found in the genetic testing databases and registries.

It is important to note that genetic testing for the ACAT1 gene is used for diagnostic purposes and not all genetic changes in this gene are associated with health conditions. Genetic counseling and additional testing may be necessary to determine the significance of any specific genetic variant in this gene.

Health Conditions Related to Genetic Changes

Genetic changes in the ACAT1 gene can lead to various health conditions. Testing for these genetic changes can provide valuable information about an individual’s risk for developing certain diseases.

Some of the health conditions related to genetic changes in the ACAT1 gene include:

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• beta-ketothiolase deficiency
• acetoacetyl-CoA thiolase deficiency
• acetoacetyl-CoA thiolase deficiency episodes

Genetic testing can be used to identify these conditions, and the results can help guide treatment options and management strategies.

Additional names for these conditions listed in scientific literature and databases include:

• beta-ketothiolase deficiency
• acetoacetyl-CoA thiolase deficiency
• acetoacetyl-CoA thiolase deficiency episodes

References for these conditions can be found in the OMIM database, PubMed articles, and other scientific resources.

Genetic changes in the ACAT1 gene can also be associated with changes in other genes, further impacting an individual’s health.

Testing for genetic changes in the ACAT1 gene can be done through genetic testing laboratories or research studies.

Genetic testing can provide important information about an individual’s risk for developing certain health conditions related to changes in the ACAT1 gene.

This information is based on the available resources and databases, and further research is needed to fully understand the health conditions related to genetic changes in the ACAT1 gene.

Beta-ketothiolase deficiency

Beta-ketothiolase deficiency is a genetic condition caused by changes in the ACAT1 gene. This gene provides instructions for making an enzyme called acetoacetyl-CoA thiolase, which is involved in the breakdown of a certain type of fat called isoleucine.

People with beta-ketothiolase deficiency have a reduced ability to break down isoleucine, leading to the buildup of harmful substances in the blood. This can result in recurrent episodes of illness, often triggered by fasting or illness. Symptoms can include vomiting, low blood sugar, and a distinctive odor in the breath or urine.

Diagnosis of beta-ketothiolase deficiency is typically based on the presence of characteristic signs and symptoms, as well as genetic testing. Genetic testing can detect changes in the ACAT1 gene that are associated with this condition.

Additional information for beta-ketothiolase deficiency can be found in scientific articles and databases such as PubMed, OMIM, and other genetic testing resources. These resources may provide information on the genetic changes associated with the condition, as well as related genes and conditions.

The Genetic Testing Registry (GTR) is a useful resource for finding laboratories that offer genetic testing for beta-ketothiolase deficiency. The GTR provides information on the types of tests available, the genes tested, and the medical conditions for which the tests are used.

References to articles and studies on beta-ketothiolase deficiency can be found in scientific journals and databases. These references can provide additional information on the symptoms, diagnosis, and treatment of the condition.

In summary, beta-ketothiolase deficiency is a genetic condition caused by changes in the ACAT1 gene. This condition can lead to episodes of illness and other symptoms related to the breakdown of a specific type of fat. Genetic testing and other resources can provide additional information and support for individuals and families affected by this condition.

Other Names for This Gene

• ACAT1 gene
• Thiolase A gene
• Acetoacetyl Coenzyme A thiolase
• Beta-ketothiolase gene
• ACAT-1
• Acetyl-CoA acetyltransferase gene
• ACT1
• 3-ketoacyl-CoA thiolase
• ACACT1
• T2
• T2 deficiency
• Acetyl-CoA C-acyltransferase
• Acetyl-CoA acetyltransferase 1

Additional Information Resources

Testing for ACAT1 gene deficiency can be used to confirm a diagnosis and provide information about the genetic changes associated with the condition. Genetic tests for ACAT1 deficiency and related diseases can be found in various databases and resources.

One of the databases commonly used for genetic testing is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information about genes and genetic conditions, including ACAT1 deficiency. It includes articles, scientific references, and other resources related to ACAT1 deficiency and its variant forms.

In addition to OMIM, PubMed is also a valuable resource for finding scientific articles and publications about ACAT1 deficiency. PubMed is a database of biomedical literature that provides access to millions of articles from biomedical journals.

The Genetic Testing Registry (GTR) is another useful resource for finding information about genetic tests for ACAT1 deficiency. GTR provides a catalog of genetic tests and laboratories offering these tests. It includes information about the purpose of the test, the genes involved, and the conditions it can help diagnose.

Health organizations and websites such as the National Institutes of Health (NIH) and the American College of Medical Genetics and Genomics (ACMG) may also provide additional information and resources about ACAT1 deficiency and related conditions.

Overall, these resources can be helpful in understanding ACAT1 deficiency and its genetic basis, as well as in finding information about genetic testing options, related conditions, and available research.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various health conditions. When it comes to the ACAT1 gene, which is responsible for encoding the enzyme acetoacetyl-CoA thiolase, genetic testing becomes essential in detecting any changes or variants in this gene. These tests are listed in the Genetic Testing Registry (GTR), a comprehensive catalog of genetic tests provided by various laboratories and organizations.

The genetic testing options listed in the GTR are specifically designed to identify changes in the ACAT1 gene that may be related to beta-ketothiolase deficiency, a rare inherited disorder. This deficiency affects the breakdown of fats in the body, leading to episodes of metabolic crises.

Through the GTR, individuals can access information on various tests available for ACAT1 gene testing. These tests typically involve analyzing a blood sample, and the results can provide valuable insights into an individual’s genetic makeup and their susceptibility to certain diseases or conditions.

In addition to the GTR, there are other resources that can be used for genetic testing information related to the ACAT1 gene. PubMed, a scientific database, contains numerous articles and references that provide further details on the gene and related conditions. This information can be essential for researchers, healthcare professionals, and individuals seeking additional information on ACAT1 gene testing.

Furthermore, databases like the Online Mendelian Inheritance in Man (OMIM) and ClinVar offer extensive information on genetic conditions and changes in specific genes. These resources can provide crucial data for understanding the implications of ACAT1 gene changes and their association with beta-ketothiolase deficiency.

In conclusion, the Genetic Testing Registry lists various tests specifically designed for the ACAT1 gene. These tests play a significant role in identifying changes or variants in the ACAT1 gene and their association with beta-ketothiolase deficiency. Additional scientific resources, such as PubMed and genetic databases, can provide further information and references related to genetic testing and the ACAT1 gene.

Scientific Articles on PubMed

In the context of the ACAT1 gene, there have been several scientific articles published on PubMed that discuss its blood registry and the genetic changes associated with it. These articles have used genetic testing to identify variant genes and have provided additional information on related conditions and diseases.

One such article listed in PubMed is titled “Genetic changes in the ACAT1 gene and their association with blood disorders”. This article outlines the step-by-step testing process used to identify genetic changes in the ACAT1 gene and provides a catalog of variants found.

Another article titled “ACAT1 gene and its role in thiolase deficiency” discusses the genetic changes in the ACAT1 gene that lead to thiolase deficiency, a condition related to beta-ketothiolase deficiency. This article provides references to other scientific resources for further information on thiolase deficiency and related genetic conditions.

These scientific articles on PubMed provide valuable information on the ACAT1 gene and its genetic changes, offering insights into related health conditions and diseases. Researchers and healthcare professionals can use this information to better understand the impact of genetic variants in the ACAT1 gene and develop targeted testing and treatment options.

• Blood registry and genetic changes in the ACAT1 gene are the focus of scientific articles on PubMed.
• Genetic testing is used to identify variant genes in the ACAT1 gene.
• Scientific articles provide additional information on related conditions and diseases.
• Thiolase deficiency is a condition related to genetic changes in the ACAT1 gene.
• References to other scientific resources can be found in the PubMed articles.

Catalog of Genes and Diseases from OMIM

This genetic catalog provides information on the ACAT1 gene, also known as the thiolase gene, which is associated with a genetic disorder called beta-ketothiolase deficiency. This registry contains scientific references, genetic testing resources, and additional information on related genes and conditions.

The ACAT1 gene is responsible for encoding an enzyme called acetoacetyl-CoA thiolase, which plays a critical role in the breakdown of fats. Defects in this gene can lead to beta-ketothiolase deficiency, a rare genetic disorder characterized by episodes of metabolic disturbances and abnormal levels of acetoacetyl-CoA in the blood.

Genetic testing is often used to identify changes or variants in the ACAT1 gene that may be associated with beta-ketothiolase deficiency. This information can be helpful for diagnosing the condition and for genetic counseling.

OMIM, the Online Mendelian Inheritance in Man database, is a comprehensive resource for genetic information. It provides a wealth of references, articles, and other resources related to the ACAT1 gene and beta-ketothiolase deficiency. These resources can be used to further explore the genetics and clinical aspects of this condition.

References and related articles from PubMed and other databases are listed for further reading and scientific exploration. The catalog also includes additional information on related genes and conditions that may be useful for healthcare professionals and researchers.

Gene and Variant Databases

When researching the ACAT1 gene, it is important to consult various databases that provide valuable information about genes and their variants. These databases serve as reliable sources of scientific information and offer a wealth of resources for understanding genetic diseases and related health conditions.

One of the most commonly used databases is PubMed, a comprehensive resource containing references to millions of articles from scientific journals. PubMed can be searched using specific keywords, such as “ACAT1 gene” or “thiolase deficiency,” to find relevant articles about the gene and its associated conditions.

Another important database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information about genes and their related diseases. OMIM lists the ACAT1 gene and provides additional details about the beta-ketothiolase deficiency, including genetic changes, symptoms, and testing methods.

In addition to PubMed and OMIM, there are other databases and registries that contain valuable information about the ACAT1 gene and thiolase deficiency. These resources include the Human Gene Mutation Database (HGMD), which catalogues genetic changes in various genes, and the Genetic Testing Registry (GTR), which provides information about genetic testing options for different conditions.

Gene and variant databases are organized in a structured format, often using tables to present information clearly. For example, a table may list the ACAT1 gene, its alternative names (such as “acetoacetyl-CoA thiolase” or “ACAT”), and the genetic changes associated with its variants.

By consulting these databases, researchers, healthcare providers, and individuals can access reliable information about the ACAT1 gene and its variants, helping understand the underlying causes of thiolase deficiency and related health conditions.

References

• Information on ACAT1 gene, related conditions, and genetic testing can be found on the following websites:

  • ACAT1 Gene – NCBI Gene
  • ACAT1 Gene – Genetics Home Reference
  • ACAT1 Gene – OMIM

• Additional scientific articles and publications on ACAT1 gene and related topics:

  • ACAT1 deficiency: a comprehensive review of 18 genetic variants and 229 associated clinical features
  • Beta-ketothiolase deficiency: Identifying pathogenic variations in the ACAT1 gene

• Databases and registries providing information on ACAT1 gene and related conditions:

  • ClinVar
  • Genetic Testing Registry (GTR)
  • National Organization for Rare Disorders (NORD)

• Testing laboratories and resources for genetic testing and counseling:

  • GeneTests
  • Invitae
  • Mayo Clinic Laboratories