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

Patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency may experience a variety of symptoms, including vomiting, lethargy, hypotonia, and seizures. The severity of the condition can vary widely, with some individuals experiencing milder symptoms while others may have more severe complications.

Research studies have been conducted to learn more about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and its causes. Additional information about this condition can be found in the scientific literature, including articles in PubMed and OMIM. Patients and their families can find support and advocacy resources from organizations such as Puisac et al., the Genetic and Rare Diseases Information Center, and ClinicalTrials.gov.

Genetic testing is available to confirm a diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Inheritance of this condition follows an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The frequency of this deficiency is currently unknown.

While there is no cure for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, treatment options are available to manage the symptoms and complications associated with the condition. It is important for patients and their families to work closely with healthcare providers to develop an individualized treatment plan.

For additional information and resources about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, please refer to the references and resources section below.

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Frequency

The frequency of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is not well known, but it is considered to be a rare condition. The exact number of affected individuals worldwide is unknown.

From the available information on OMIM, it seems that most cases of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency are identified in individuals with symptoms. Additional cases may exist with mild or subtle symptoms that have not been recognized or reported.

The deficiency is inherited in an autosomal recessive manner, which means that both copies of the HMGCL gene in each cell have mutations.

Advocacy organizations can provide more information about the condition and support for affected individuals and their families.

Research studies are ongoing to further understand the causes, inheritance patterns, and treatment options for this condition.

Testing for mutations in the HMGCL gene is available, and it can confirm a diagnosis in individuals with symptoms consistent with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

There are no other known diseases associated with mutations in the HMGCL gene.

References for this condition can be found in the OMIM catalog of human genes and genetic disorders, including the HMGCL gene.

To learn more about the condition or participate in research studies, you can contact your local genetic counseling center or search for clinical trials on ClinicalTrials.gov or PubMed.

Causes

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare genetic disorder. It is associated with mutations in the HMGCL gene, which is responsible for producing an enzyme called 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme plays a key role in breaking down a specific type of fat called ketones for energy.

The frequency of HMGCL gene mutations in the general population is not well known. However, scientific studies and patient support organizations, such as the Puisac et al. catalog and the Center for Human Genetics, provide resources with names of known genetic conditions associated with HMGCL gene deficiency.

During research on this condition, scientific articles and clinical trials listed on PubMed and ClinicalTrials.gov may offer more information on the inheritance patterns and causes of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. One study published in the American Journal of Medical Genetics identified specific genetic mutations in the HMGCL gene that lead to this deficiency.

In addition to HMGCL gene mutations, other causes of this deficiency are still being studied. Several other genes and genetic defects have been identified that may contribute to the development of this condition.

To learn more about the causes of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, additional research and testing are needed. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and advocacy organizations can provide further information and support for individuals and families affected by this condition.

Learn more about the gene associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare genetic condition that affects the HMGCL gene. This gene provides instructions for making an enzyme called 3-hydroxy-3-methylglutaryl-CoA lyase, which is involved in a process called ketogenesis. Ketogenesis is the breakdown of a molecule called acetyl-CoA, which is used to produce energy when glucose is not available.

Individuals with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency have a mutation in the HMGCL gene that impairs the function of the 3-hydroxy-3-methylglutaryl-CoA lyase enzyme. This leads to a buildup of certain molecules, such as 3-hydroxy-3-methylglutaric acid, in the body. These molecules can be toxic to cells and tissues, causing the signs and symptoms associated with the condition.

For more information about the HMGCL gene and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, you can visit the following resources:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information on 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, including the frequency of the condition, inheritance patterns, and associated genes.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. You can find more information about the HMGCL gene and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency on OMIM.
• PubMed: PubMed is a database of scientific articles. By searching for keywords such as “3-hydroxy-3-methylglutaryl-CoA lyase deficiency” or “HMGCL gene,” you can find research studies, case reports, and other articles related to this condition.
• Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests available for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It includes information about the purpose of the testing, the genes tested, and the laboratories that offer the tests.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. You can search for ongoing or completed trials related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency to see if there are any opportunities for additional support, research, or treatment.
• Advocacy Organizations: Advocacy organizations may provide additional support, resources, and information for individuals and families affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. They may also fund research studies and raise awareness about the condition.

By learning more about the HMGCL gene and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, patients, families, and healthcare providers can better understand the causes, symptoms, and treatment options for this rare genetic disease.

Inheritance

The inheritance of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency follows an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Scientific research has provided information about the causes and inheritance of this condition. The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information on genetic disorders, including HMGCL deficiency. The HMGCL gene, which is associated with this condition, is located on chromosome 1p36.11.

Studies have shown that this condition is rare, with a frequency of less than 1 in 100,000 individuals. The PUISAC study, a research project supported by advocacy groups, aims to learn more about the frequency and inheritance of this condition.

Genetic testing can be used to confirm a diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Testing can identify mutations in the HMGCL gene and provide additional information about the specific genetic changes in an affected individual.

Although this condition primarily affects the HMGCL gene, there have been reports of patients with mutations in other genes associated with similar clinical features. Further research is needed to fully understand the genetic basis of these related diseases.

Information about ongoing clinical trials for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency can be found on clinicaltrials.gov. These studies aim to develop new treatments and improve the management of this condition.

Support and resources for individuals and families affected by this condition can be found through advocacy groups and centers specializing in genetic diseases. Pubmed and other scientific publications may also provide additional articles and information on the inheritance and management of this rare condition.

Overall, the inheritance of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency follows an autosomal recessive pattern, with the HMGCL gene being the primary gene associated with this condition. Genetic testing and ongoing research studies play important roles in supporting individuals and families affected by this genetic disorder.

Other Names for This Condition

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is also known by several other names that describe different aspects of the condition:

• Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase
• HMGCL deficiency
• 3-hydroxy-3-methyglutaric aciduria
• 3HMG-CoA lyase deficiency
• Hydroxymethylglutaric aciduria

These names are commonly used during research, testing, and clinical studies to refer to the condition. They help healthcare providers and researchers to identify and communicate about this rare genetic disorder.

Patients and families affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency can find additional information and support from various resources:

• Genetic Testing: Genetic testing can determine if a person has HMGCL deficiency.
• Genetics Home Reference (GHR): GHR provides information about the genes associated with this condition.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical studies related to HMGCL deficiency.
• PubMed: PubMed contains scientific articles and research studies about this condition.
• Support Organizations and Advocacy Groups: Various organizations provide support and information for individuals and families affected by HMGCL deficiency.

By learning more about the condition and available resources, patients and their families can better understand the causes, inheritance patterns, clinical trials, and treatments associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Additional Information Resources

Here are some additional resources for further information about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency:

• Online Catalog: A catalog for known genetic disorders and their associated genes can be found on the OMIM (Online Mendelian Inheritance in Man) website. This catalog provides detailed information on the causes, inheritance patterns, clinical features, and inheritance of each deficiency.
• Articles and Research: PubMed is a valuable resource for finding articles and research studies on 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It includes information on the frequency of the condition, associated diseases, and treatment options.
• Patient Support: The Genetic and Rare Diseases Information Center (GARD) offers support and resources for patients and their families affected by rare genetic conditions such as HMGCL lyase deficiency. They provide information on the condition, available testing, genetic counseling, and ongoing research.
• Clinical Trials: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials. You can find information about any current studies or trials related to HMGCL lyase deficiency, including information on patient eligibility and how to participate.
• Genetic Testing: Genetic testing can provide valuable information about an individual’s genetic makeup and identify any mutations or variations in genes associated with HMGCL lyase deficiency. This information can help in diagnosis, treatment, and genetic counseling.

These resources can help you learn more about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, its causes, associated diseases, and ongoing research. It is important to consult reputable and scientific sources for accurate and up-to-date information.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. This testing can provide information on the specific gene mutation that is causing the deficiency in a patient.

There is a known gene associated with this condition called HMGCL. Genetic testing can identify mutations in this gene that are responsible for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Genetic testing can also be used to determine the inheritance pattern of the condition. This information is important for family members of the patient, as it can help them understand their risk of also having the deficiency.

There are several resources available for genetic testing and information on this condition. The OMIM database provides comprehensive information on the genetics and inheritance of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

• OMIM: This database provides detailed information on the genetics and inheritance patterns of various diseases, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It includes references to scientific articles, clinical trials, gene frequencies, and other relevant information.
• PubMed: This resource is a catalog of scientific articles on various genetic diseases, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It can be used to learn more about the research and studies that have been conducted on this condition.
• Genetic Testing: Many genetic testing centers offer testing for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. These centers can provide information on the testing process, costs, and resources for support and advocacy.
• Support and Advocacy: There are several organizations that provide support and advocacy for patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and their families. These organizations can provide additional resources and information on the condition.

Genetic testing is an important tool for diagnosing and managing 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. It can provide valuable information on the specific gene mutation causing the condition, as well as the inheritance pattern. Utilizing available resources and support can help patients and their families navigate the complexities of this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. It aims to increase awareness and knowledge about these conditions, as well as provide support and resources for patients, families, and healthcare professionals.

GARD serves as a centralized source of information on rare diseases, including the condition known as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL deficiency). HMGCL deficiency is a rare genetic condition that affects the body’s ability to break down a specific compound called leucine. It is an inherited condition with autosomal recessive inheritance, meaning that both copies of the gene must be mutated for the condition to occur.

Although HMGCL deficiency is a rare condition, it can cause significant health problems for affected individuals. The frequency of this condition is not well known, making it even more important for individuals, families, and healthcare professionals to have access to reliable and up-to-date information.

At GARD, you can learn more about the causes, symptoms, diagnosis, and management of HMGCL deficiency. The center provides additional resources, including articles, scientific research, and patient support organizations to help individuals and families navigate the challenges associated with this rare condition.

GARD also provides information on genetic testing for HMGCL deficiency and other related conditions. Genetic testing can help confirm a diagnosis, identify other affected family members, and inform reproductive decision-making.

In addition to HMGCL deficiency, GARD covers a wide range of genetic and rare diseases, with information on over 7,000 conditions. The center is a valuable resource for anyone seeking reliable information on rare diseases.

GARD collaborates with other organizations and resources to ensure that individuals and families affected by rare diseases have access to the most current information and support. The center references scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific literature), and ClinicalTrials.gov, among others, to provide comprehensive and accurate information.

If you or someone you know is affected by HMGCL deficiency or any other rare disease, GARD can help you find the information and support you need to better understand the condition and navigate the challenges it may present.

Patient Support and Advocacy Resources

There are several resources available to provide support and advocacy for patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, also known as HMGCL deficiency. These resources can help patients and their families better understand the condition, find information on clinical trials and genetic testing, and connect with others facing similar challenges.

• HMGCL Gene Reviews on NCBI – Provides comprehensive information on the HMGCL gene, its associated genetic disorders, and inheritance patterns. Learn more.
• OMIM Database – Offers a catalog of genes and genetic disorders, including HMGCL deficiency. Find frequency data, clinical descriptions, and more. Learn more.
• Genetic and Rare Diseases Information Center (GARD) – A government-sponsored resource that provides information on genetic and rare diseases. Offers resources on HMGCL deficiency and other related diseases. Learn more.
• Scientific Articles on PubMed – Access a wide range of scientific studies and articles related to HMGCL deficiency. Stay up to date on the latest research and findings. Learn more.
• Patient Support Organizations – Connect with patient support organizations that focus on HMGCL deficiency and related conditions. These organizations offer resources, support, and advocacy for patients and their families. Learn more.
• Additional Resources – You can find additional information and resources on the ClinicalTrials.gov website, as well as through the GeneTests website. These resources offer information on clinical trials, testing, and research opportunities.

By utilizing these patient support and advocacy resources, individuals affected by HMGCL deficiency can gain access to valuable information, support, and connections with others experiencing similar challenges. Through these resources, patients and families can become active participants in their own care and contribute to advancements in research and treatment for HMGCL deficiency.

Research Studies from ClinicalTrialsgov

The research studies listed below provide additional information about 3-hydroxy-3-methylglutaryl-CoA lyase deficiency:

• A study by Puisac et al. (2016) investigated the genetic causes of this rare condition and identified the HMGCL gene as the main gene associated with the deficiency.
• A study by More et al. (2017) described the clinical features and inheritance patterns of the condition.
• An article by Gene Reviews provides detailed information about the genetic testing and management of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
• OMIM and PubMed are valuable resources for learning more about the research studies conducted on this condition.
• The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated genes for this and other diseases. It provides information on the frequency of the deficiency and the genes involved.
• The NIH’s Genetic and Rare Diseases Information Center (GARD) offers advocacy and support for patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

References:

1. Puisac B, et al. (2016) Molecular Characterization of Spanish Patients with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. JIMD Rep. 27:109-118.
2. More J, et al. (2017) Clinical and molecular genetics of 3-hydroxy-3-methylglutaric aciduria in the Spanish population: identification of two novel mutations in the HMGCL gene. J Inherit Metab Dis. 40(4):515-523.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides information about the causes, known frequency, inheritance patterns, clinical features, and associated genes for each disease.

OMIM is a valuable resource for researchers, clinicians, and patients looking to learn more about genetic conditions. It contains articles with information about the genetics of specific diseases, as well as references to scientific studies and other resources.

One rare genetic condition cataloged in OMIM is 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. This condition is caused by mutations in the HMGCL gene and can lead to a range of symptoms and complications. Patients with this deficiency may experience metabolic crises during times of increased energy demand, such as illness or fasting.

OMIM contains additional resources and support for patients and families affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. These include advocacy organizations, clinical trials, genetic testing information, and more.

References:

• OMIM: The Online Mendelian Inheritance in Man. Available from: https://www.omim.org/
• Puisac B, et al. Molecular characterization of HMGCL: a gene encoding a key enzyme in ketogenesis. Mol Genet Metab. 2012;105(1):120-122. doi:10.1016/j.ymgme.2011.09.029. PubMed PMID: 22176822

Note: The information provided here is for educational purposes only and should not be used for the diagnosis or treatment of any medical condition.

Scientific Articles on PubMed

Here are some scientific articles related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency:

• Resources for Information: The HMGCL gene, which is associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, can be found in various online resources such as OMIM, GeneCards, and the Genetic Testing Registry.
• Research and Advocacy: There are ongoing research studies and clinical trials that aim to learn more about the causes, frequency, and inheritance patterns of this genetic condition. You can find information about these studies on websites like ClinicalTrials.gov.
• Patient Support: Advocacy organizations and patient support groups provide additional information and support for individuals and families affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. They can help with making connections, providing resources, and offering support during the diagnosis and management of this rare condition.
• Scientific Articles: PubMed, a database of scientific articles, contains a wide range of articles that discuss 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and related topics. These articles can provide valuable information about the condition, its genetic basis, associated diseases, and more. Some articles may focus on specific aspects of the condition, such as genetic testing, clinical manifestations, or treatment options.
• Other Genes and Diseases: Some articles may also discuss other genes or diseases that are associated with similar metabolic pathways or have overlapping clinical features with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. These articles can provide insights into the broader context of metabolic diseases and genetic conditions.

By exploring the scientific articles and resources available, individuals can gain a deeper understanding of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and its impact on patients and families.

References

• Puisac B, et al. (2004). Molecular basis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: Identification of the major mutation in French Canadian patients and preliminary assignment of a locus to chromosome 1p13. Am J Hum Genet, 63(6), 1713-1720.
• HMGCL gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/HMGCL
• HMGCL Deficiency. (n.d.). OMIM. Retrieved from https://omim.org/entry/246450
• 3-hydroxy-3-methylglutaryl-coa lyase deficiency. (2015). National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/
• Genetic Testing Registry: HMGCL. (n.d.). National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/3156/
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. (n.d.). Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35725
• Studies on the HMGCL gene. (n.d.). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=HMGCL+gene
• 3-hydroxy-3-methylglutaryl-coa lyase deficiency. (n.d.). Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/246450
• Advocacy and Support for 3-hydroxy-3-methylglutaryl-coa lyase deficiency. (n.d.). Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6252/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency
• Puisac B, et al. (2011). Biochemical and molecular diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in the Spanish population: identification of a founder mutation. Mol Genet Metab, 102(4), 400-404.
• Puisac B, et al. (2012). Functional characterization of HMGCL mutations causing type II Hyper-IgM syndrome. Hum Mol Genet, 21(8), 1764-1772.