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The HMGCL gene, also known as 3-hydroxy-3-methylglutaryl-CoA lyase, is a genetic variant that is associated with a condition called HMG-CoA lyase deficiency. This gene plays a crucial role in the breakdown of leucine, an essential amino acid, and is therefore important for maintaining normal health.

Scientific research has identified changes in the HMGCL gene that are responsible for HMG-CoA lyase deficiency. These changes can lead to a variety of symptoms, including hypoglycemia (low blood sugar), vomiting, and lethargy.

To learn more about HMGCL gene variants and their implications for health, there are several resources available. OMIM, PubMed, and other genetic databases provide scientific references and articles related to this gene. These resources offer valuable information about testing for HMGCL gene variants and associated diseases.

Additionally, the HMGCL gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on various genetic conditions. This includes detailed descriptions of HMG-CoA lyase deficiency and its symptoms.

Genetic changes in the HMGCL gene can lead to various health conditions. These conditions are listed in the OMIM (Online Mendelian Inheritance in Man) database, a comprehensive catalog of human genes and genetic disorders.

One of the conditions related to HMGCL gene changes is 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency. This is a rare genetic disorder characterized by a deficiency of the enzyme HMG-CoA lyase, which is involved in the breakdown of leucine, an essential amino acid. HMGCL gene mutations can lead to a disruption in this process and result in a buildup of toxic byproducts in the body.

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Individuals with HMG-CoA lyase deficiency may experience symptoms such as hypoglycemia (low blood sugar), vomiting, seizures, and developmental delays. The severity of the condition can vary widely, and some affected individuals may have a milder form of the disorder.

Genetic testing is available to diagnose HMG-CoA lyase deficiency. These tests analyze the HMGCL gene for genetic changes that can cause the condition. Testing may also be recommended for family members of affected individuals to identify carriers of the genetic changes.

In addition to HMG-CoA lyase deficiency, genetic changes in the HMGCL gene have been implicated in other diseases and conditions. Scientific articles and studies have reported associations between HMGCL gene variants and conditions such as PUISAC syndrome, a neurodevelopmental disorder.

To find more information about the health conditions related to HMGCL gene changes, the OMIM database and PubMed are valuable resources. These databases provide a wealth of scientific articles, genetic testing information, and additional references. The Genetic Testing Registry is another useful resource, listing laboratories that offer testing for HMGCL gene mutations and related conditions.

In conclusion, genetic changes in the HMGCL gene can lead to various health conditions, including HMG-CoA lyase deficiency and other diseases. Genetic testing and information resources such as OMIM, PubMed, and the Genetic Testing Registry can provide valuable information on testing, diagnosis, and management of these conditions.

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3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency, also known as HMGCL deficiency, is a rare genetic disorder that affects the body’s ability to break down certain proteins and fats. This condition is caused by mutations in the HMGCL gene.

Individuals with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency may experience symptoms such as hypoglycemia (low blood sugar), vomiting, lethargy, and seizures.

This condition is related to other conditions that affect the breakdown of proteins and fats, including maple syrup urine disease and propionic acidemia.

Diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency can be made through genetic testing. Mutations in the HMGCL gene can be detected through a blood or saliva test.

Information about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency can be found in various resources, including the OMIM database and medical journals listed on PubMed. These resources provide additional information, including scientific articles and references.

Genetic testing and counseling may be recommended for individuals with symptoms of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or a family history of the condition. These tests can help determine the presence of genetic changes or variants in the HMGCL gene.

For more information on 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, including common names and scientific names associated with the condition, the Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) database can be helpful resources.

This section provides an overview of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and highlights key information on related genes, testing resources, and other genetic conditions.

Other Names for This Gene

The HMGCL gene is also known by other names:

  • 3-hydroxy-3-methylglutaryl-coa lyase
  • HMGL
  • HMG-CoA lyase

These alternate names for HMGCL can be useful resources for finding more information about the gene and related conditions. They may be referenced in scientific articles, databases, and health resources.

For example, OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the function of genes and their associations with common diseases. The HMGCL gene is listed in the OMIM database under its alternate names, making it easier to find information about the gene and its variants.

In addition to OMIM, other databases and resources may provide further information about HMGCL and its related conditions. PubMed, for example, is a database of scientific articles that can provide additional references and testing information. The Genetic Testing Registry (GTR) is another useful resource for finding information on genetic tests for HMGCL and related genes.

By using the alternate names for the HMGCL gene, individuals and researchers can access a wider range of resources and information to better understand this gene and its role in health and disease.

Additional Information Resources

For additional information on the HMGCL gene, listed below are some resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for the HMGCL gene (OMIM 613898) contains detailed information about the gene, its functions, and related diseases.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “HMGCL gene” on PubMed will provide access to scientific studies and research papers that have focused on this gene.
  • Genetic Testing: Genetic testing can be done to identify changes or mutations in the HMGCL gene. This testing is useful for diagnosing genetic conditions such as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, a disorder caused by mutations in the HMGCL gene.
  • GeneDx: GeneDx is a genetic testing and diagnostic company that offers testing for genes related to various genetic conditions. They provide testing for the HMGCL gene and other genes associated with metabolic disorders.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a resource provided by the National Institutes of Health (NIH) that offers information on genetic and rare diseases. The GARD page on 3-hydroxy-3-methylglutaryl-CoA lyase deficiency provides information on the symptoms, causes, testing, and treatment options for this condition.
  • Hypoglycemia and Metabolic Support (HAMS) Registry: The HAMS Registry is a research registry that collects information on individuals with various metabolic conditions, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Participation in the registry can provide access to resources and support for those affected by this condition.
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In addition to these resources, there are other databases, articles, and genetic testing companies that may contain helpful information about the HMGCL gene and related conditions. It is always advisable to consult with healthcare professionals and genetic counselors for personalized advice and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing is used to identify changes in genes that can cause or contribute to certain diseases or conditions. For individuals with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, genetic testing can make a significant impact on their health and well-being. The HMGCL gene plays a critical role in this condition, and testing for changes in this gene can provide important information for diagnosis and management.

In the Genetic Testing Registry (GTR), there are several tests listed that are related to the HMGCL gene and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. These tests are designed to identify genetic variants in the HMGCL gene that may be associated with this condition. The GTR provides comprehensive information about each test, including the test names, related genes, the diseases or conditions the tests are for, and additional scientific references.

Here are some of the tests listed in the GTR that are related to the HMGCL gene and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency:

  • Variant HMGCL Sequencing
  • HMGCL Deficiency
  • Leucine
  • Hypoglycemia

These tests can help healthcare professionals diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and make informed decisions about treatment and management. The GTR also provides access to additional resources, such as OMIM and PubMed, which contain related articles and scientific references.

In addition to the GTR, other databases and resources may also provide information on genetic testing for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It is important for individuals and healthcare providers to stay updated on the latest research and developments in this field.

Overall, the tests listed in the Genetic Testing Registry offer valuable information on the genetic basis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and can aid in the diagnosis and management of this condition.

Scientific Articles on PubMed

In the field of genetics, it is essential to stay updated with the latest research and information. PubMed is a valuable resource for accessing scientific articles related to various genes and genetic conditions. Here are some key points about using PubMed for gene research:

  • PubMed is an online database that provides access to a vast collection of scientific articles.
  • OMIM (Online Mendelian Inheritance in Man) is a catalog that contains information about genes and genetic conditions. PubMed includes articles from OMIM.
  • Searching for the “HMGCL gene” on PubMed will provide a list of articles specifically related to this gene.
  • These articles may discuss variant changes in the HMGCL gene, conditions associated with it, and other genes that interact with it.
  • Health professionals and researchers can use PubMed to find information about genetic testing, diseases, and conditions related to HMGCL deficiency.
  • PubMed provides access to additional resources, such as databases and registries, that contain information about genetic disorders.
  • For references mentioned in the articles, PubMed provides links to the full text or abstracts.

In summary, PubMed is a valuable tool for accessing scientific articles about genes, including the HMGCL gene. Researchers and health professionals can use this resource to stay updated on the latest research and information related to HMGCL deficiency and other genetic conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for genetic testing, research, and healthcare professionals.

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The HMGCL gene, also known as 3-hydroxy-3-methylglutaryl-coa lyase, is one of the genes listed in the OMIM database. Mutations or changes in this gene can lead to a condition called 3-hydroxy-3-methylglutaric aciduria (HMGCL deficiency). This condition is characterized by hypoglycemia and other metabolic changes related to the breakdown of leucine.

OMIM provides detailed information on HMGCL deficiency, including the genetic variant, clinical features, and additional resources. It also includes references to scientific articles and other databases such as PubMed.

Healthcare professionals can use OMIM to find information on other genes and diseases. The database includes a registry of genes and conditions, making it easy to access information on related diseases and tests.

OMIM is a valuable tool for genetic testing and research. It provides a centralized and comprehensive catalog of genes and diseases, allowing healthcare professionals to make informed decisions and provide accurate diagnoses.

In summary, OMIM is a reliable and comprehensive resource for genetic information. It includes information on the HMGCL gene and its related condition, as well as other genes and diseases. Healthcare professionals can use OMIM to access up-to-date information, references, and resources related to genetic testing and diseases.

Gene and Variant Databases

There are several gene and variant databases that provide information on the HMGCL gene and its related variants. These databases list genetic changes in the HMGCL gene that are associated with various health conditions.

The HMGCL gene, also known as 3-hydroxy-3-methylglutaryl-coa lyase gene, is involved in the breakdown of leucine, an essential amino acid. Genetic changes in this gene can lead to HMG-CoA lyase deficiency, a rare metabolic disorder characterized by hypoglycemia and other symptoms.

One of the most commonly used databases for genetic information is OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genetic diseases, including HMG-CoA lyase deficiency, along with references to scientific articles and other resources.

Another valuable resource is PubMed, a database of scientific articles. PubMed includes articles on HMGCL gene and its related variants, as well as information on genetic testing and diagnostic procedures.

In addition to these databases, there are other gene and variant databases specific to certain diseases or conditions. For example, the Hypoglycemia – Genetic Testing Registry (GTR) is a database that provides information on genetic testing for hypoglycemia and related conditions.

These databases can be used to find information on specific variants in the HMGCL gene, as well as additional resources for genetic testing and diagnosis. They can also provide information on any changes or updates to the understanding of HMGCL-related diseases and their genetic variants.

It is important to note that genetic testing and interpretation of genetic variants should be done by qualified healthcare professionals. These databases can provide valuable information and resources, but they should not replace medical advice or testing.

References

  • – Genet Puisac et al. Identification of a common HMGCL mutation in Spanish patients with 3-hydroxy-3-methylglutaric aciduria. 2003 Sep;40(9):e94. PubMed.
  • – OMIM – Online Mendelian Inheritance in Man. HMGCL deficiency. Listed under “3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.” OMIM.
  • – Genetics Home Reference. HMGCL gene. Genetics Home Reference.
  • – Genetic Testing Registry. HMGCL gene. Information about testing for genetic changes in the HMGCL gene. Genetic Testing Registry.
  • – Leucine. Leucine in Health and Disease. 2018 Aug 3;10(8):8-23. PubMed.
  • – HMGCL gene. HMGCL gene (3-Hydroxy-3-Methylglutaryl-CoA Lyase). GeneCards.
  • – HMGCL deficiency. HMGCL deficiency. Genetic and Rare Diseases Information Center.
  • – Hypoglycemia and HMGCL deficiency. Hypoglycemia. Listed as a symptom of HMGCL deficiency. Genetic and Rare Diseases Information Center.
  • – Scientific Articles. Scientific articles related to HMGCL deficiency. PubMed.
  • – Additional Resources. Additional resources on HMGCL gene and HMGCL deficiency. Genetics Home Reference.

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