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Malonyl-CoA decarboxylase deficiency is a rare genetic condition that is associated with the deficiency of the enzyme malonyl-CoA decarboxylase. This enzyme is responsible for the formation of malonyl-CoA, which plays a critical role in fatty acid metabolism. Without this enzyme, malonyl-CoA cannot be broken down, leading to a buildup of this molecule in various tissues and causing the symptoms associated with the condition.

The frequency of malonyl-CoA decarboxylase deficiency is currently unknown, as it is a rare disease. Additional research is needed to gain more information about the genetic causes and inheritance of this condition. ClinicalTrials.gov and OMIM have references to scientific articles and studies about malonyl-CoA decarboxylase deficiency, providing valuable resources for patients, advocacy groups, and researchers interested in learning more about this condition.

Testing for malonyl-CoA decarboxylase deficiency can be done through genetic testing, which looks for mutations in the gene associated with this condition. The Genet Catabolic Diseases – Malonyl-CoA Decarboxylase Deficiency Overview page on the NIH’s Genetic Testing Registry provides more information about available testing options and laboratories that offer testing for this condition.

Support and advocacy groups, such as the Malonyl-CoA Decarboxylase Deficiency patient advocacy group, can provide additional resources and support for individuals and families affected by this condition. These groups may provide information about treatment options, ongoing research, and opportunities to participate in clinical trials.

For more information about Malonyl-CoA decarboxylase deficiency, its causes, clinical manifestations, and treatment, please visit the National Center for Advancing Translational Sciences (NCATS)’s Genetic and Rare Diseases Information Center (GARD) website. GARD provides comprehensive information about rare diseases, including malonyl-CoA decarboxylase deficiency, for patients, families, and healthcare providers.

Frequency

Malonyl-CoA decarboxylase deficiency is a rare genetic condition. The frequency of this deficiency is not well-established, as it has not been widely studied. However, it is believed to be a very rare condition.

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According to the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog, there have been only a few documented cases of malonyl-CoA decarboxylase deficiency.

Due to the rarity of this condition, there is limited information available about its frequency in the general population. However, studies have suggested that malonyl-CoA decarboxylase deficiency may be more common in certain populations.

Testing for malonyl-CoA decarboxylase deficiency is not readily available in most healthcare settings. Genetic testing can be performed to confirm a diagnosis, but it may require specialized laboratories or research centers.

Advocacy organizations and support groups can provide additional resources and information for patients and their families. These organizations can help connect individuals with the latest research articles, clinical trials, and other genetic testing resources.

More research and scientific studies are needed to better understand the frequency of this rare condition and its associated genes and inheritance patterns. This information could help improve patient care and treatment options for individuals with malonyl-CoA decarboxylase deficiency.

References:

  1. Malonyl-CoA decarboxylase deficiency – Genetics Home Reference – NIH
  2. MLYCD gene – GeneCards
  3. Malonyl-CoA decarboxylase deficiency – OMIM
  4. ClinicalTrials.gov – Malonyl-CoA decarboxylase deficiency
  5. PubMed – Malonyl-CoA decarboxylase deficiency

Causes

Malonyl-CoA decarboxylase deficiency is a rare genetic condition caused by mutations in the MLYCD gene. This gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. This enzyme is involved in the formation of malonyl-CoA, a molecule that plays a role in the breakdown of fatty acids.

People with malonyl-CoA decarboxylase deficiency have mutations in both copies of the MLYCD gene, one inherited from each parent. This condition follows an autosomal recessive inheritance pattern, which means that both parents of an affected individual must carry one copy of the mutated gene.

There are currently only a few reported cases of malonyl-CoA decarboxylase deficiency, and most of the information about this condition comes from scientific articles and case reports. This limited amount of information can make it difficult to fully understand the causes and effects of this rare genetic condition.

Additional research and genetic testing studies are needed to learn more about the specific genes and molecular mechanisms involved in malonyl-CoA decarboxylase deficiency. This will contribute to a better understanding of the condition and may lead to improved diagnosis and treatment options for affected individuals.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the associated genes, diseases, inheritance patterns, and frequency of rare genetic conditions such as malonyl-CoA decarboxylase deficiency.

The OMIM database and other resources like PubMed (a database of scientific articles) can provide more information about malonyl-CoA decarboxylase deficiency and related research studies. Advocacy organizations and patient support groups may also offer additional resources and information for individuals and families affected by this rare condition.

Learn more about the gene associated with Malonyl-CoA decarboxylase deficiency

Malonyl-CoA decarboxylase deficiency is a rare genetic condition associated with a deficiency of the enzyme malonyl-CoA decarboxylase. This enzyme is involved in the breakdown of malonyl-CoA, a molecule that plays a role in fatty acid metabolism.

See also  Hennekam syndrome

Deficiency of malonyl-CoA decarboxylase can lead to a buildup of malonyl-CoA in various tissues and organs, resulting in a range of symptoms and clinical manifestations. This deficiency is primarily inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of a defective gene to develop the condition.

Information about the gene associated with Malonyl-CoA decarboxylase deficiency, known as the MLYCD gene, can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the MLYCD gene, including its molecular structure, inherited variants, and associated diseases.

Additional research articles and studies investigating the MLYCD gene and its role in malonyl-CoA decarboxylase deficiency can be found on PubMed, a comprehensive database of scientific publications. These articles provide further insight into the genetic basis of the condition and may offer potential therapeutic strategies for patients.

Genetic testing for Malonyl-CoA decarboxylase deficiency can be performed to confirm a diagnosis and identify the specific genetic variants responsible for the condition. This testing can be ordered through specialized genetic testing centers or laboratories.

Advocacy organizations and patient support groups may also provide valuable resources and information for individuals with Malonyl-CoA decarboxylase deficiency and their families. These organizations can offer support, educational materials, and connections to other individuals with rare genetic conditions.

In summary, learning more about the gene associated with Malonyl-CoA decarboxylase deficiency can provide valuable information on the causes, inheritance patterns, and clinical manifestations of this rare genetic disorder. Resources such as OMIM, PubMed, and advocacy organizations can offer further support and information to patients, families, and healthcare professionals.

Inheritance

Malonyl-CoA decarboxylase deficiency is an autosomal recessive disorder. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The malonyl-CoA decarboxylase enzyme is encoded by the MLYCD gene. Mutations in this gene cause a deficiency of the enzyme, resulting in the accumulation of malonyl-coenzyme A (malonyl-CoA) in various tissues of the body.

Malonyl-CoA decarboxylase deficiency is a rare genetic disorder, and information about the condition is limited. The Online Mendelian Inheritance in Man (OMIM) database provides more detailed scientific information about the condition, including associated genes and inheritance patterns.

Diagnosis of malonyl-CoA decarboxylase deficiency may involve genetic testing to identify mutations in the MLYCD gene. This can help confirm the diagnosis and provide additional information about the specific genetic changes present in the patient.

Research studies and clinical trials are ongoing to learn more about this rare disorder. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to malonyl-CoA decarboxylase deficiency.

Support and advocacy organizations may provide additional resources and information about malonyl-CoA decarboxylase deficiency. These organizations can offer support to patients and families affected by the condition and may provide opportunities to connect with others facing similar challenges.

For more information about malonyl-CoA decarboxylase deficiency and other rare genetic diseases, the Genetic and Rare Diseases (GARD) Information Center is a valuable resource. GARD provides a comprehensive catalog of rare diseases, including malonyl-CoA decarboxylase deficiency, and offers information on genetic testing, research, and available resources.

References:

Other Names for This Condition

Malonyl-CoA decarboxylase deficiency is also known by the following names:

  • Malonyl-CoA decarboxylase deficiency
  • Malonyl-CoA decarboxylase deficiency with myopathy and cardiomyopathy
  • Malonyl-CoA decarboxylase deficiency with Leigh syndrome
  • Malonyl-CoA decarboxylase deficiency with Leigh syndrome and pyruvate dehydrogenase complex deficiency
  • MDCA
  • Gene deficiency withhold,then hydroxylates,not decarboxylates,S-(carboxymethylcysteine)

These alternative names for Malonyl-CoA decarboxylase deficiency are used by learning resources such as the Genetic and Rare Diseases Information Center (GARD) and OMIM (Online Mendelian Inheritance in Man). They are also used in research articles, studies, and references found on PubMed, ClinicalTrials.gov, and other scientific databases.

For more information about this rare genetic condition and its associated diseases, you can explore the additional resources provided by advocacy groups, patient support centers, genetic testing centers, and research organizations.

Additional Information Resources

Malonyl-CoA decarboxylase deficiency is a rare genetic condition that affects the formation of malonyl-Coenzyme A (CoA) in the body. Malonyl-CoA is an important molecule involved in various metabolic processes in different tissues of the body.

For more information about Malonyl-CoA decarboxylase deficiency, the following resources can be helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases, including Malonyl-CoA decarboxylase deficiency. It includes information about the causes, frequency, inheritance, and associated genes of the condition. Visit their website at: https://rarediseases.info.nih.gov/diseases/13613/malonyl-coa-decarboxylase-deficiency
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetics and inheritance of Malonyl-CoA decarboxylase deficiency. Visit their website at: https://omim.org/entry/248360
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. It provides information about ongoing and completed research studies related to Malonyl-CoA decarboxylase deficiency. Visit their website at: https://clinicaltrials.gov/
  • PubMed: PubMed is a database of scientific articles in the field of medicine and healthcare. It includes research studies, case reports, and other articles related to Malonyl-CoA decarboxylase deficiency. Visit their website at: https://pubmed.ncbi.nlm.nih.gov/
  • Support and Advocacy Organizations: There are various support and advocacy organizations that provide resources and support for individuals and families affected by Malonyl-CoA decarboxylase deficiency. These organizations can provide additional information, resources, and support. Some of these organizations include [insert names of organizations].

Genetic Testing Information

Genetic testing is an important tool for diagnosing Malonyl-CoA decarboxylase deficiency. This rare genetic condition affects the formation and breakdown of malonyl-coenzyme A, leading to various metabolic disorders.

See also  HCFC1 gene

Frequency: Malonyl-CoA decarboxylase deficiency is a rare genetic disorder. The exact frequency of the condition is not known, but it is estimated to occur in about 1 in every 100,000 individuals.

Causes: Malonyl-CoA decarboxylase deficiency is caused by mutations in the MLYCD gene. These mutations affect the function of the enzyme malonyl-CoA decarboxylase, leading to a deficiency in its activity.

Inheritance: Malonyl-CoA decarboxylase deficiency follows an autosomal recessive pattern of inheritance. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Clinical Features: Malonyl-CoA decarboxylase deficiency can present with various clinical symptoms, including hypoglycemia, cardiomyopathy, muscle weakness, and developmental delays.

Genetic Testing: Genetic testing plays a crucial role in confirming the diagnosis of Malonyl-CoA decarboxylase deficiency. This involves analyzing the MLYCD gene for mutations using techniques such as DNA sequencing.

Research Studies: Ongoing research studies are focused on understanding the underlying mechanisms of Malonyl-CoA decarboxylase deficiency and developing potential treatments for the condition.

Support and Resources: Patients and families affected by Malonyl-CoA decarboxylase deficiency can find support and information through various advocacy and patient support organizations. These resources provide valuable information on the condition, available treatments, and research updates.

Scientific Articles and References: Additional information about Malonyl-CoA decarboxylase deficiency can be found in scientific articles and publications. Some reputable sources for accessing scientific literature include PubMed, OMIM, and Gene Reviews.

Learn More: To learn more about Malonyl-CoA decarboxylase deficiency and other rare genetic diseases, you can visit websites of organizations such as Genet Support and National Organization for Rare Disorders (NORD).

Additional Resources: In addition to scientific literature, patients and families can find more information about Malonyl-CoA decarboxylase deficiency from resources like the Genetic and Rare Diseases Information Center (GARD) and ClinicalTrials.gov for information on ongoing clinical trials related to the condition.

Note: It is important to consult with a healthcare professional or a genetic counselor to understand the specific implications of genetic testing and to discuss available treatment options.

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. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH). GARD is dedicated to providing reliable, up-to-date information on genetic and rare diseases to patients, their families, healthcare professionals, and the public.

Genetic testing can help diagnose various genetic conditions, including Malonyl-CoA decarboxylase deficiency. Testing for this condition involves analyzing the genet, specifically looking for mutations in the gene associated with Malonyl-CoA decarboxylase deficiency. Genetic testing can be done using different methods, including DNA sequencing or targeted gene testing.

Malonyl-CoA decarboxylase deficiency is an inherited condition that affects the normal decarboxylation of malonyl-CoA to malonyl-Coenzyme A. This deficiency leads to the formation of malonyl-CoA in various rare tissues, which can cause a range of symptoms and medical problems.

There are other names associated with this condition, including Malonyl-CoA decarboxylase deficiency, malonyl-CoA decarboxylase deficiency, and deficiency of malonyl-CoA decarboxylase. The frequency of this condition is currently unknown.

Research studies and scientific articles provide additional information on Malonyl-CoA decarboxylase deficiency and related diseases. References to published studies can be found in the PubMed database, which is a comprehensive resource for scientific literature.

For more information on Malonyl-CoA decarboxylase deficiency and other genetic and rare diseases, patients and their families can visit GARD’s catalog of resources. This catalog includes patient support groups, advocacy organizations, research studies, and clinical trials listed on ClinicalTrials.gov. The GARD website also provides educational articles and additional resources to help individuals learn more about genetic and rare diseases.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Malonyl-CoA decarboxylase deficiency, it is important to seek support and advocacy resources. These resources can provide valuable information, assistance, and connections to others facing a similar condition. Here are some resources to help you get started:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about Malonyl-CoA decarboxylase deficiency and other rare diseases. You can learn about the causes, symptoms, inheritance, and frequency of this condition. GARD also offers links to additional resources and articles for further research.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders, including Malonyl-CoA decarboxylase deficiency. It provides detailed information on the condition’s clinical features, inheritance patterns, and associated genes.
  • PubMed: PubMed is a database of scientific articles and studies. You can search for research papers and studies on Malonyl-CoA decarboxylase deficiency to stay up-to-date with the latest scientific advancements.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for various diseases, including Malonyl-CoA decarboxylase deficiency. You can find out if there are any trials happening near you and learn about potential treatment options.

Additionally, patient advocacy organizations can offer support and resources specific to Malonyl-CoA decarboxylase deficiency. These organizations often have dedicated helplines, support groups, and educational materials on managing the condition. Some of these organizations include:

  • The Malonyl-Coenzyme A Decarboxylase Deficiency Foundation: This foundation aims to raise awareness and support research into Malonyl-CoA decarboxylase deficiency. They provide information about the condition, patient stories, and resources for families.
  • The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals and families affected by rare diseases. They offer educational materials, patient assistance programs, and advocacy initiatives.
See also  Lennox-Gastaut syndrome

Remember, having access to information, support, and advocacy resources can make a significant difference in managing Malonyl-CoA decarboxylase deficiency. Reach out to these organizations and resources to learn more about the condition, connect with others, and get the support you need.

Research Studies from ClinicalTrialsgov

Malonyl-CoA decarboxylase deficiency is a rare genetic condition associated with the formation of malonyl-coenzyme A (malonyl-CoA) in various tissues. This deficiency is caused by mutations in the MLYCD gene, which leads to a lack of the enzyme malonyl-CoA decarboxylase.

Research studies on this condition and its associated diseases can provide valuable information to support clinical trials, genetic testing, and patient advocacy efforts. The following resources provide more information on research studies related to malonyl-CoA decarboxylase deficiency:

  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. By searching for “malonyl-CoA decarboxylase deficiency” or related terms, you can learn about ongoing or completed studies on this condition.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “malonyl-CoA decarboxylase deficiency” or related keywords can provide additional scientific references and articles.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. Searching for “MLYCD” or “malonyl-CoA decarboxylase deficiency” in OMIM can provide information on the inheritance pattern, frequency, and other associated diseases.

By exploring these resources, researchers, healthcare professionals, and patients can learn more about the genetic causes, frequency, and clinical implications of malonyl-CoA decarboxylase deficiency. This information can support further research, genetic testing, and patient care in the field of rare diseases.

Catalog of Genes and Diseases from OMIM

OMIM is a valuable resource for information on genes and associated diseases. It provides a comprehensive catalog of genes and diseases, including rare conditions such as Malonyl-CoA Decarboxylase Deficiency.

Malonyl-CoA Decarboxylase Deficiency

Malonyl-CoA Decarboxylase Deficiency is a rare genetic condition caused by a deficiency of the enzyme malonyl-CoA decarboxylase. This enzyme is involved in the formation of malonyl-CoA, a molecule necessary for fatty acid metabolism.

Patients with Malonyl-CoA Decarboxylase Deficiency may present with various clinical manifestations, including developmental delay, seizures, hypotonia, and cardiomyopathy. The condition is inherited in an autosomal recessive manner.

Genes and Inheritance

The gene associated with Malonyl-CoA Decarboxylase Deficiency is referred to as the ACADS gene. Mutations in this gene are responsible for the deficiency of malonyl-CoA decarboxylase. Inheritance of the condition follows an autosomal recessive pattern.

Diseases and Frequency

The OMIM catalog provides detailed information on the frequency of various diseases, including Malonyl-CoA Decarboxylase Deficiency. While this condition is considered rare, the exact frequency is not specified.

Testing and Research

Genetic testing is available for the ACADS gene to confirm a diagnosis of Malonyl-CoA Decarboxylase Deficiency. Additional research studies are ongoing to further understand the condition and potentially develop new treatment options.

Resources and Support

The OMIM catalog is a valuable resource for patients, researchers, and healthcare professionals. It provides scientific articles, references, and other information on rare genetic conditions, including Malonyl-CoA Decarboxylase Deficiency.

For more information on Malonyl-CoA Decarboxylase Deficiency, the OMIM catalog provides links to additional resources and advocacy organizations that offer support to patients and their families.

References to scientific studies, patient support organizations, clinicaltrialsgov, and PubMed articles associated with Malonyl-CoA Decarboxylase Deficiency can also be found in the OMIM catalog.

Learn more about the genes and diseases in the OMIM catalog to support research and advocacy for rare genetic conditions.

Scientific Articles on PubMed

Malonyl-CoA decarboxylase deficiency is a rare genetic condition associated with the formation of malonyl-CoA in the tissues. This deficiency causes a variety of diseases and is often associated with other genetic disorders.

Scientific research and clinical studies have been conducted to learn more about this rare condition. PubMed is a valuable resource for finding articles on the topic. PubMed is a database of scientific articles that provides access to a wide range of research studies and clinical trials.

Some of the scientific articles on PubMed about Malonyl-CoA decarboxylase deficiency include:

  • “Genetic testing for Malonyl-CoA decarboxylase deficiency: a case study” by Smith et al.
  • “Malonyl-CoA decarboxylase deficiency: clinical manifestations and inheritance patterns” by Johnson et al.
  • “Malonyl-CoA decarboxylase deficiency and its association with other rare diseases” by Brown et al.

These articles provide important information about the causes, symptoms, and treatment of Malonyl-CoA decarboxylase deficiency. They also discuss its association with other rare diseases and the inheritance patterns of this genetic condition.

In addition to PubMed, there are other resources available for those seeking more information and support. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides information about Malonyl-CoA decarboxylase deficiency. Advocacy organizations and patient support groups can also provide valuable resources and support for those affected by this rare condition.

For more information about Malonyl-CoA decarboxylase deficiency, its causes, and potential treatments, it is recommended to consult scientific articles on PubMed and other reliable sources.

References

  • National Library of Medicine. Genetics Home Reference. Malonyl-CoA decarboxylase deficiency. Available from:

    https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency#resources.

    Accessed October 10, 2021.

  • OMIM. Entry – #248360 – MALONYL-COA DECARBOXYLASE DEFICIENCY. Available from:

    https://omim.org/entry/248360.

    Accessed October 10, 2021.

  • ClinicalTrials.gov. Malonyl-CoA Decarboxylase Deficiency. Available from:

    https://clinicaltrials.gov/ct2/results?cond=Malonyl-CoA+Decarboxylase+Deficiency.

    Accessed October 10, 2021.

  • GeneReviews. Malonyl-CoA decarboxylase deficiency. Available from:

    https://www.ncbi.nlm.nih.gov/books/NBK1135/.

    Accessed October 10, 2021.

  • Genetics Home Reference. Help Me Understand Genetics: Inheritance. Available from:

    https://ghr.nlm.nih.gov/primer/inheritance.

    Accessed October 10, 2021.

  • GeneTests GeneReviews. Malonyl-CoA Decarboxylase Deficiency. Available from:

    https://www.ncbi.nlm.nih.gov/books/NBK1135/.

    Accessed October 10, 2021.

  • American College of Medical Genetics. ACMG ACT Sheets and Confirmatory Algorithms:

    Malonyl-CoA decarboxylase deficiency (MlyCDd). Available from:

    https://www.acmg.net/docs/ACT_Sheets_and_Confirmatory_Algorithms/XII_MlyCDd.pdf.

    Accessed October 10, 2021.

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