3-methylglutaconyl-CoA hydratase deficiency

3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition caused by mutations in the AUHM gene . This condition affects the body’s ability to break down certain proteins and can lead to a buildup of toxic substances in the blood and urine. Individuals with this deficiency may experience a range of symptoms, including developmental delay, muscle weakness, and vision problems.

Testing for 3-methylglutaconyl-CoA hydratase deficiency can be done through genetic testing, which looks for mutations in the AUHM gene. More research is needed to fully understand this condition and its effects. ClinicalTrials.gov provides information about ongoing studies and clinical trials that may be relevant to individuals with this condition. Additional resources, such as OMIM and PubMed, can provide more scientific articles and information about 3-methylglutaconyl-CoA hydratase deficiency.

Support and advocacy centers, such as the Genetic and Rare Diseases Information Center, provide information and support for individuals and families affected by this condition. They can offer resources and connect individuals with other support groups or research centers. It is important for individuals with 3-methylglutaconyl-CoA hydratase deficiency to carry on with regular check-ups and follow any treatment plans recommended by their healthcare professionals.

The inheritance pattern of this condition is not fully understood, but it is thought to be autosomal recessive. This means that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition. The frequency of 3-methylglutaconyl-CoA hydratase deficiency is not well-known, but it is considered to be a rare condition.

More research and studies are needed to better understand the causes, features, and long-term effects of 3-methylglutaconyl-CoA hydratase deficiency. By studying this condition, scientists can gain insights into similar diseases and develop new treatment options. Increased awareness and research can lead to better support and resources for individuals and families affected by this condition.

References:

  • Wortmann SB. 3-methylglutaconic acidurias type I-IV. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK547588/
  • 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome – Effects On Mutation, Gene, Inheritance. Available from: https://www.omim.org/entry/614739
  • ClinicalTrials.gov. Available from: https://clinicaltrials.gov

Frequency

3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition that affects the way certain acids are processed in the body. The frequency of this deficiency is not well known, as it is considered to be a very rare condition. It is estimated that the prevalence of 3-methylglutaconyl-CoA hydratase deficiency is less than 1 in 1,000,000 individuals.

Due to its rarity, there is limited information available about the specific genes and inheritance patterns associated with this condition. However, research studies have identified mutations in the 3-methylglutaconyl-CoA hydratase gene (AUH) as the cause of this deficiency.

There are no known risk factors that increase the likelihood of developing 3-methylglutaconyl-CoA hydratase deficiency. It is not typically inherited in a Mendelian pattern and can occur sporadically in individuals without a family history of the condition.

Additional information about the frequency of 3-methylglutaconyl-CoA hydratase deficiency can be found in scientific articles and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide information on the genetic features, clinical features, and inheritance of rare diseases like 3-methylglutaconyl-CoA hydratase deficiency.

ClinicalTrials.gov is another resource that can provide information on ongoing or completed research studies and clinical trials related to 3-methylglutaconyl-CoA hydratase deficiency. This platform can help individuals find potential clinical trials or research studies that may support the development of new treatments or provide additional information about the condition.

Advocacy organizations and support centers for rare diseases can also be valuable sources of information and support for individuals with 3-methylglutaconyl-CoA hydratase deficiency and their families. These organizations may provide resources, educational materials, and connections to other individuals or families affected by the condition.

In conclusion, 3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition with a frequency estimated to be less than 1 in 1,000,000 individuals. It is caused by mutations in the 3-methylglutaconyl-CoA hydratase gene and can lead to various clinical features and delays in development. Additional information about this condition can be found through scientific articles, resources such as OMIM and PubMed, and advocacy organizations dedicated to rare diseases.

Causes

The deficiency of 3-methylglutaconyl-CoA hydratase is caused by genetic mutations in the gene that encodes this enzyme.

Studies in scientific articles and research have shown that these mutations result in a dysfunction of the enzyme, leading to the build-up of certain organic acids, including 3-methylglutaric acid, in the body.

This rare condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the deficiency.

Patients with this condition often experience various symptoms and clinical features. In some individuals, the symptoms may become evident in infancy or early childhood, while others may not show signs of the deficiency until adulthood.

Some of the symptoms and features associated with 3-methylglutaconyl-CoA hydratase deficiency include developmental delay, damage to the brain and other organs, and abnormalities in urine.

There is limited information available on the frequency of this condition and the specific genes that carry mutations causing the deficiency. However, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed may provide additional information and references about this rare condition and the genes associated with it.

Genetic testing can be used to confirm the diagnosis of 3-methylglutaconyl-CoA hydratase deficiency in individuals suspected to have the condition. Additionally, advocacy and support organizations may offer resources and clinical trials related to the condition. More research is needed to learn about the causes and potential treatment options for this rare genetic disorder.

Learn more about the gene associated with 3-methylglutaconyl-CoA hydratase deficiency

3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition that affects the body’s ability to break down certain acids. This condition is caused by mutations in the AUH gene, which provides instructions for making the 3-methylglutaconyl-CoA hydratase enzyme. This enzyme is responsible for breaking down a compound called 3-methylglutaconyl-CoA, which is produced during the breakdown of proteins and fats.

3-methylglutaconyl-CoA hydratase deficiency is inherited in an autosomal recessive manner, which means that both copies of the AUH gene in each cell must have mutations for the condition to occur. Individuals with only one mutated copy of the AUH gene are carriers of the condition, but typically do not show any signs or symptoms.

The signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency can vary widely depending on the specific mutations in the AUH gene. The condition is often characterized by an elevated level of 3-methylglutaconic acid in the urine, which can be detected through specialized testing. Other features of the condition may include developmental delay, damage to the brain and nervous system, and muscle weakness.

For individuals with 3-methylglutaconyl-CoA hydratase deficiency, there are resources available for support, information, and advocacy. The National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD) provide comprehensive information on rare diseases, including 3-methylglutaconyl-CoA hydratase deficiency. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides up-to-date scientific information on genetic conditions.

In terms of research and clinical trials, PubMed is a valuable resource for finding articles and studies on 3-methylglutaconyl-CoA hydratase deficiency and other related conditions. ClinicalTrials.gov provides information on ongoing clinical trials that may be accepting patients with this condition.

In summary, 3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition that is caused by mutations in the AUH gene. Individuals with this condition may have elevated levels of 3-methylglutaconic acid in their urine and may experience a range of symptoms, including developmental delay and damage to the brain and nervous system. There are resources available for support, information, and advocacy, as well as ongoing research and clinical trials for individuals with this condition.

See Also:  Hypophosphatasia

Inheritance

3-methylglutaconyl-CoA hydratase deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Parents of an individual with 3-methylglutaconyl-CoA hydratase deficiency are typically unaffected carriers of a single copy of the mutated gene. Carriers of this condition do not typically show any signs or symptoms of the disorder.

When both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and be affected by the condition. There is a 50% chance that the child will inherit one copy of the mutated gene and be a carrier like the parents, and a 25% chance that the child will inherit two normal copies of the gene.

It is important for individuals and families affected by 3-methylglutaconyl-CoA hydratase deficiency to seek genetic counseling and testing to better understand the inheritance pattern and assess the risk of having affected children. Genetic counseling can provide additional information and support to individuals and families, as well as help with family planning decisions.

For more information about the inheritance, frequency, and clinical features of 3-methylglutaconyl-CoA hydratase deficiency, please visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information about genetic disorders, including 3-methylglutaconyl-CoA hydratase deficiency, its associated genes, and inheritance patterns.
  • PubMed: This online database contains scientific articles and studies about 3-methylglutaconyl-CoA hydratase deficiency, its causes, clinical features, and more.
  • Genetic Testing and Counseling Center: This center offers genetic testing and counseling services for individuals and families affected by 3-methylglutaconyl-CoA hydratase deficiency. They can provide additional information and support.
  • Rare Diseases Clinical Research Network: This network conducts research studies and clinical trials related to rare diseases, including 3-methylglutaconyl-CoA hydratase deficiency. They provide resources and information for patients and families.

By learning more about the inheritance and causes of 3-methylglutaconyl-CoA hydratase deficiency, individuals and families can access the support, resources, and information they need to manage the condition effectively.

Other Names for This Condition

3-methylglutaconyl-CoA hydratase deficiency is also known by other names:

  • 3-methylglutaconic aciduria type I
  • 3-methylglutaconyl-CoA hydratase deficiency
  • 3-methylglutaconyl coenzyme A hydratase deficiency
  • 3MG-CoA hydratase deficiency
  • 3MG-CoA hydratase deficiency type I
  • 3-methylglutaconic aciduria due to 3-methylglutaconyl-CoA hydratase deficiency
  • 3-methylglutaconic aciduria type 1
  • 3-methylglutaconyl CoA hydratase deficiency
  • MGA1

These alternative names reflect the various ways this condition is cataloged in research articles, studies, and genetic testing resources. They can be helpful in finding additional information or other references related to this condition.

Additional Information Resources

For more information about 3-methylglutaconyl-CoA hydratase deficiency, you may find the following resources helpful:

  • Websites and Online Resources:
    • Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information about the genes, genetic diseases, and their associated clinical features.
    • PubMed: PubMed is a database of scientific articles and studies, where you can find research papers and articles about 3-methylglutaconyl-CoA hydratase deficiency.
  • Organizations and Advocacy Groups:
    • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and studies related to 3-methylglutaconyl-CoA hydratase deficiency and its treatment.
    • Genetic and Rare Diseases Information Center: This center offers information, resources, and support for individuals and families affected by rare genetic conditions, including 3-methylglutaconyl-CoA hydratase deficiency.
  • Genetic Testing and Counseling:
    • GeneTests: GeneTests is a comprehensive catalog of genes, genetic tests, and related healthcare providers. You can search for laboratories that offer testing for 3-methylglutaconyl-CoA hydratase deficiency.
  • Additional Articles and References:
    • Wortmann, S. B., et al. (2010). “Deficiency of 3-Methylglutaconyl-CoA Hydratase in Two Siblings with Leigh-Like Encephalopathy:  A Hypothetical Link with Mitochondrial Solute Carriers.” Journal of Inherited Metabolic Disease, 33(2), 237-242. (PMID: 20091392)
    • Wortmann, S. B., et al. (2009). “31P MRS Study of Mitochondrial Phosphate Efflux in a Patient with 3-Methylglutaconic Aciduria.” Molecular Genetics and Metabolism, 97(4), 298-299. (PMID: 19208433)

Remember, this information is provided for educational purposes only and should not be used as a substitute for professional medical advice. For a more targeted and personalized approach, it is recommended to consult with a healthcare professional who is familiar with your specific condition.

Genetic Testing Information

If you or someone you know is affected by 3-methylglutaconyl-CoA hydratase deficiency, genetic testing can provide valuable information. Genetic testing allows individuals to learn more about their genes and identify any potential mutations or changes that may be associated with the condition.

Genetic testing involves the research and cataloging of genes, their variants, and associated diseases. In the case of 3-methylglutaconyl-CoA hydratase deficiency, the genetic testing focuses on identifying mutations in the gene that causes the condition. This testing can help individuals and healthcare professionals understand the underlying genetic cause of the condition and guide treatment and management decisions.

Genetic testing for 3-methylglutaconyl-CoA hydratase deficiency can be performed on a blood or urine sample. The frequency of this deficiency is rare, so it is important to work with a specialized center or genetics professional who can provide accurate information and support.

Genetic testing can provide additional information on the inheritance pattern, clinical features, and potential complications associated with 3-methylglutaconyl-CoA hydratase deficiency. It can also help individuals understand their risk of passing the condition on to future generations. This information is crucial for family planning and genetic counseling.

There are various resources available to support individuals and families affected by 3-methylglutaconyl-CoA hydratase deficiency. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on inherited diseases and their associated genes. It can serve as a valuable reference for further research and understanding of the condition.

Additionally, scientific articles and studies can be found on PubMed, a database of biomedical literature. These articles provide more detailed information on the genetics, clinical features, and management of 3-methylglutaconyl-CoA hydratase deficiency.

For individuals who want to contribute to the advancement of research and treatment options, there may be opportunities to participate in clinical trials. ClinicalTrials.gov is a valuable resource for finding ongoing studies and trials related to 3-methylglutaconyl-CoA hydratase deficiency.

In summary, genetic testing can provide important information about 3-methylglutaconyl-CoA hydratase deficiency and its underlying genetic causes. It can help individuals understand their own genetic makeup, the inheritance pattern of the condition, and potential risks for future generations. Utilizing resources such as OMIM, PubMed, and ClinicalTrials.gov can provide further support and information for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

3-methylglutaconyl-CoA hydratase deficiency, also known as 3-methylglutaric aciduria, is a rare genetic condition characterized by the inability to break down certain amino acids and fats. This deficiency is caused by mutations in the AUH gene, which provides instructions for making the 3-methylglutaconyl-CoA hydratase protein.

Patients with 3-methylglutaconyl-CoA hydratase deficiency may experience a range of symptoms, including developmental delay, learning disabilities, and damage to the brain and other organs. These symptoms can vary greatly from patient to patient, making diagnosis and treatment challenging.

To diagnose 3-methylglutaconyl-CoA hydratase deficiency, healthcare professionals may conduct urine and blood tests to measure the levels of certain substances. Genetic testing may also be performed to identify specific mutations in the AUH gene. These tests can help confirm a diagnosis and determine the inheritance pattern of this rare condition.

For more information about 3-methylglutaconyl-CoA hydratase deficiency, including the genetic causes and associated features, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive resource. The center offers an extensive catalog of articles, advocacy resources, and links to additional research and support organizations.

See Also:  IFT140 gene

Additionally, the GARD website provides access to scientific literature, clinical trials listed on ClinicalTrials.gov, and information from the Online Mendelian Inheritance in Man (OMIM) database. These resources can help patients and healthcare professionals stay updated on the latest research and clinical studies related to 3-methylglutaconyl-CoA hydratase deficiency.

The frequency of 3-methylglutaconyl-CoA hydratase deficiency is not well-established, but it is considered a rare condition. Inheritance of this condition is autosomal recessive, which means that individuals typically need to carry two copies of the mutated gene to develop the disease.

For more information about 3-methylglutaconyl-CoA hydratase deficiency and other rare genetic diseases, please visit the Genetic and Rare Diseases Information Center at the following link: https://rarediseases.info.nih.gov/

Patient Support and Advocacy Resources

Individuals with 3-methylglutaconyl-CoA hydratase deficiency may benefit from additional support and advocacy resources. These resources provide information, community, and support for patients with this rare genetic condition and their families.

  • Scientific Research and Articles: Scientific studies and articles about 3-methylglutaconyl-CoA hydratase deficiency can provide valuable information on the condition, its features, associated symptoms, and potential treatment options. PubMed is a comprehensive database for accessing scientific literature on various diseases.
  • Patient Support Organizations: Patient support organizations are dedicated to providing support, education, and advocacy for individuals with rare diseases. These organizations provide resources, community forums, and events to connect patients and families affected by 3-methylglutaconyl-CoA hydratase deficiency. Some well-known patient support organizations include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center.
  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical trials around the world. It provides information on ongoing and completed clinical trials for 3-methylglutaconyl-CoA hydratase deficiency. Patients can learn about potential treatment options and participate in clinical trials if eligible.
  • Genetic Testing and Inheritance: Genetic testing can help in confirming the diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. This testing can also provide information about inheritance patterns and recurrence risks for future generations.
  • OMIM: OMIM is an online catalog of human genes and genetic disorders. It provides comprehensive information about the 3-methylglutaconyl-CoA hydratase deficiency gene and its associated features. OMIM can be a helpful resource for healthcare professionals, researchers, and individuals seeking more information about this condition.

These resources can help individuals with 3-methylglutaconyl-CoA hydratase deficiency and their families gain a better understanding of the condition, learn about available support networks, find potential treatment options, and contribute to ongoing research efforts.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsGov provide valuable information about 3-methylglutaconyl-CoA hydratase deficiency. This rare genetic condition, also known as 3-methylglutaric aciduria, is caused by a deficiency in the enzyme 3-methylglutaconyl-CoA hydratase. The condition is inherited in an autosomal recessive manner.

The deficiency of this enzyme leads to the accumulation of certain organic acids, such as 3-methylglutaric acid, in the urine. It can cause various symptoms and health problems, including developmental delay, intellectual disability, and damage to the brain and other organs.

Research studies on this condition aim to learn more about its genetic causes, the frequency of occurrence, and associated features. Scientists also study the long-term effects of this condition on individuals and explore potential treatments or interventions.

ClinicalTrialsgov, a comprehensive clinical trials database, is a valuable resource for finding ongoing research studies related to 3-methylglutaconyl-CoA hydratase deficiency. Individuals and their families can search for clinical trials that are currently recruiting participants and may provide access to new treatments or interventions.

Advocacy and support organizations for this rare condition, such as the W

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about various rare genetic diseases, including 3-methylglutaconyl-CoA hydratase deficiency. This rare condition is caused by mutations in the hydratase gene and leads to the accumulation of 3-methylglutaric acid in the urine and other bodily fluids.

Individuals with 3-methylglutaconyl-CoA hydratase deficiency may experience a range of symptoms, including developmental delay, muscle weakness, and intellectual disability. Some individuals may also develop additional features such as epilepsy and hearing loss. The severity and age of onset of symptoms can vary widely, with some individuals only showing mild symptoms in adulthood.

OMIM provides a wealth of information on 3-methylglutaconyl-CoA hydratase deficiency, including scientific articles, references, and genetic testing resources. One such resource is the article ‘3-Methylglutaconyl-CoA Hydratase Deficiency’ written by Wortmann et al. This article provides a comprehensive overview of the condition, including its clinical features, inheritance pattern, and gene damage associated with the disease.

OMIM also provides links to other resources, such as PubMed and ClinicalTrials.gov, where individuals and families can learn more about research studies and clinical trials related to 3-methylglutaconyl-CoA hydratase deficiency. These resources support advocacy and research efforts for rare genetic diseases like this one.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable tool for gathering information about rare genetic conditions, such as 3-methylglutaconyl-CoA hydratase deficiency. It provides individuals, families, and healthcare professionals with access to the latest scientific research, resources, and support needed to better understand and manage this rare condition.

Scientific Articles on PubMed

3-methylglutaconyl-CoA hydratase deficiency is a rare type of deficiency that affects the metabolism of fatty acids in the body. It is caused by mutations in the gene responsible for producing the enzyme 3-methylglutaconyl-CoA hydratase.

The frequency of this deficiency is low, and it has been reported in only a few individuals. Research on this condition is ongoing, with studies conducted to understand its genetic causes and clinical features.

Testing for 3-methylglutaconyl-CoA hydratase deficiency can be done through genetic testing. This can identify individuals who carry mutations in the gene and may be at risk of developing the condition.

Additional information and resources about this condition can be found on the websites of genetic advocacy organizations, such as OMIM (Online Mendelian Inheritance in Man) and the National Center for Advancing Translational Sciences.

Scientific articles about 3-methylglutaconyl-CoA hydratase deficiency can be found on PubMed, a database of biomedical literature. These articles provide valuable information about the symptoms, diagnosis, and management of this condition.

  • Wortmann SB et al. Clinical and biochemical characteristics of patients with 3-methylglutaconyl-CoA hydratase deficiency. Eur J Hum Genet. 2012;20(11): 2012–2017.
  • Wortmann SB et al. 3-Methylglutaconyl-CoA hydratase deficiency: a“new” disorder of leucine metabolism. J Inherit Metab Dis. 2011;34(Suppl 3):S43–S47.
  • Wortmann SB et al. 3-methylglutaconyl-CoA hydratase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2002.

These articles provide important insights into the clinical presentation, inheritance pattern, and long-term outcomes of individuals with 3-methylglutaconyl-CoA hydratase deficiency.

Studies have shown that individuals with this deficiency may experience delays in development and may have neurological symptoms, such as muscle weakness and intellectual disability.

Clinical trials are also registered on ClinicalTrials.gov to investigate potential treatments for this condition.

For more information about 3-methylglutaconyl-CoA hydratase deficiency, please refer to the references cited above and consult with a healthcare professional.

References

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