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The MCEE gene is related to methylmalonic acidemia. Methylmalonic acidemia is listed in the Genetic and Rare Diseases Information Center (GARD) registry as well as in other databases. This gene is one of the genes listed in the GeneTests Laboratory Registry and in GeneDx’s Deafness GeneTests catalog. The MCEE gene is also included in the OMIM catalog and has been mentioned in scientific articles and publications.

The MCEE gene is involved in the breakdown of certain acids, including methylmalonic acid. This acid is a result of changes in the metabolism of proteins and fats. Mutations in the MCEE gene can lead to a deficiency in the enzyme methylmalonyl-CoA ester. This deficiency can cause various genetic conditions, such as methylmalonic acidemia.

Testing for variants in the MCEE gene can provide additional information for individuals with symptoms or a family history of methylmalonic acidemia. These tests can be conducted by healthcare professionals, and the results can be used for diagnosis and treatment. References to the MCEE gene can be found in scientific literature and databases such as PubMed.

Genetic changes in the MCEE gene can lead to various health conditions. One such condition is methylmalonic acidemia, which is a rare genetic disorder characterized by the inability to break down certain proteins and fats.

People with methylmalonic acidemia may experience symptoms such as poor feeding, vomiting, dehydration, lethargy, and developmental delays. This condition can be diagnosed through genetic testing, which can detect changes in the MCEE gene.

In addition to methylmalonic acidemia, genetic changes in the MCEE gene may be related to other health conditions. These conditions may be listed in scientific articles, databases, or other resources that catalog genetic diseases.

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Testing for genetic changes in the MCEE gene can be done through various methods, such as targeted gene testing or whole exome sequencing. These tests can provide information about specific changes in the gene, such as variants or nonsense mutations.

Further research is needed to understand the full range of health conditions related to genetic changes in the MCEE gene. Additional information can be found in scientific articles, databases like OMIM, or through the MCEE gene registry. References to these resources can be found in the citations and references sections of related articles.

Methylmalonic acidemia

Methylmalonic acidemia is a genetic disorder characterized by the inability to break down certain proteins and fats properly. This condition is caused by changes in the MCEE gene, which provide instructions for making an enzyme called methylmalonyl-CoA epimerase. These changes can result in a variant form of the enzyme that is less active or not functional. As a result, methylmalonyl-CoA cannot be converted to another compound, and this leads to a buildup of methylmalonic acid in the body.

Methylmalonic acidemia can have a wide range of signs and symptoms. Some people may experience mild symptoms, while others may have severe complications. The severity and specific features of this condition can vary widely among affected individuals.

Diagnosis of methylmalonic acidemia is usually done through genetic testing. Sequencing the MCEE gene can identify specific changes that cause the condition. Testing may also involve measuring levels of methylmalonic acid in body fluids or enzyme activity levels in a blood sample.

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Treatment for methylmalonic acidemia focuses on managing symptoms and preventing complications. This may involve a special diet low in certain proteins and fats, as well as supplementation with certain vitamins and other nutrients. Regular monitoring and follow-up with a healthcare provider is necessary to manage this condition effectively.

For additional information on methylmalonic acidemia, the following resources may be helpful:

  • PubMed: The PubMed database provides access to scientific articles and research related to methylmalonic acidemia and other genetic disorders.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, conditions, and other genetic variants associated with methylmalonic acidemia.
  • Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for methylmalonic acidemia and related diseases.
  • ClinicalTrials.gov: This database provides information on clinical trials and research studies related to methylmalonic acidemia and potential treatments or interventions.
  • References: Consulting medical textbooks or journal articles may provide additional information on methylmalonic acidemia and related conditions.

Overall, methylmalonic acidemia is a genetic disorder caused by changes in the MCEE gene. It leads to difficulties in breaking down proteins and fats, resulting in a buildup of methylmalonic acid. Diagnosis is typically done through genetic testing, and treatment involves managing symptoms and following a specialized diet. Various databases, scientific articles, and other resources can provide further information on this condition.

Other Names for This Gene

  • MCEE gene
  • Methylmalonyl-CoA epimerase
  • Methylmalonyl-coenzyme A epimerase
  • MMEE
  • MMCE

This gene is also referred to by other names, including Methylmalonyl-CoA Epimerase Enzyme (MCEE), which is an enzyme that plays a crucial role in the breakdown of certain fats in our body. Mutations in the MCEE gene can result in genetic conditions such as methylmalonic acidemia, a disorder in which the body is unable to break down methylmalonyl-coA, leading to a buildup of methylmalonic acid.

Tests for changes in the MCEE gene can be done to diagnose or confirm the presence of methylmalonic acidemia. Additional genetic testing may be required to identify the specific variant or changes in the gene that are responsible for the condition. Numerous scientific articles and resources, such as OMIM and PubMed databases, provide information on the MCEE gene, its associated diseases, and related research.

Additional Information Resources

For additional information on the MCEE gene, testing, and related conditions, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man: A comprehensive catalog of human genes and genetic disorders. It provides information on the MCEE gene and its variants associated with methylmalonic acidemia, as well as other related conditions. You can access OMIM at: https://www.omim.org.
  • PubMed – A database of scientific articles on biomedical topics. You can search for articles related to the MCEE gene, methylmalonic acidemia, and other related conditions using keywords such as “MCEE gene” or “methylmalonic acidemia” on the PubMed website: https://pubmed.ncbi.nlm.nih.gov/.
  • Methylmalonic Acidemia & Homocystinuria Informational Registry – A registry for people affected by methylmalonic acidemia and other related disorders. It provides resources, support, and information on the latest research and clinical trials. You can find more information at: https://www.mmaregistry.org/.
  • Genetic Databases – There are several genetic databases that can provide information on the MCEE gene and its variants. Examples include dbSNP, ClinVar, and ExAC. These databases can be useful for finding information about specific genetic changes and their frequencies in the population.

In addition to these resources, it is recommended to consult with a healthcare professional or genetic counselor for personalized information and guidance on MCEE gene testing and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a catalog of genetic tests for the MCEE gene and other related genes involved in methylmalonyl-CoA mutase deficiency, methylmalonic acidemia, and other related conditions. These scientific tests can help identify changes in the MCEE gene that may result in health issues or other genetic conditions.

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These tests are listed in the Genetic Testing Registry along with additional information such as the names of the genes being tested, OMIM references, genetic testing databases, and articles from PubMed. The registry serves as a valuable resource for people seeking testing for methylmalonyl-CoA mutase deficiency and related diseases.

Some of the tests listed in the Genetic Testing Registry include:

  • Methylmalonyl-CoA Mutase Deficiency Test
  • Methylmalonic Acidemia Variant Test
  • Genetic Tests for Other Related Genes

These tests can provide important information about the presence of specific genetic changes related to methylmalonyl-CoA mutase deficiency and related diseases. The information obtained from these tests can help individuals and healthcare professionals make informed decisions regarding treatment and management of these conditions.

It’s important to note that the availability and accuracy of these tests may vary. Genetic testing should be performed by qualified professionals and interpreted in conjunction with a comprehensive medical evaluation. Individuals considering genetic testing should consult with a healthcare professional and/or a genetic counselor to understand the potential risks, benefits, and limitations of testing.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to health and diseases. It is a valuable resource for researchers and healthcare professionals to gather information on various topics, including genetic testing, genes, and related conditions. This section lists some of the scientific articles available on PubMed that are relevant to the MCEE gene and methylmalonic acidemia.

  • Genetic testing for MCEE gene variants

    One of the key aspects of studying the MCEE gene is conducting genetic tests to identify variants or changes in this gene that may be related to methylmalonic acidemia and other conditions. Several scientific articles on PubMed discuss the different tests available for the MCEE gene and their results.

  • Scientific articles on methylmalonic acidemia and related conditions

    Methylmalonic acidemia is a group of genetic disorders characterized by the improper breakdown of fats and proteins in the body. PubMed has numerous scientific articles that provide information on the causes, symptoms, diagnosis, and treatment of methylmalonic acidemia and related conditions.

  • Resources and databases for additional information

    PubMed also lists articles that discuss various resources and databases available to researchers and healthcare professionals for additional information on the MCEE gene, methylmalonyl-CoA mutase, and related genes. These resources include OMIM, GeneTests, and the Methylmalonic Acidemia Registry.

By exploring the scientific articles listed on PubMed, researchers and healthcare professionals can gain valuable insights into the MCEE gene, methylmalonic acidemia, and related genetic conditions. These articles provide a foundation for further research and understanding of these complex diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is one of the most comprehensive databases available for genetic information on diseases. It provides detailed information on genes and their associated diseases, as well as references to scientific articles and other resources. This catalog serves as a registry for genes and conditions listed in OMIM, providing additional information on gene names, changes in gene sequences, and related diseases.

One of the genetic conditions covered in OMIM is Methylmalonic Acidemia. This condition is caused by mutations in the MCEE gene, which is responsible for the breakdown of fatty acids and amino acids in the body. People with Methylmalonic Acidemia have a deficiency in the MCEE gene, resulting in the accumulation of methylmalonyl-CoA and other toxic substances.

The catalog provides a list of genes associated with Methylmalonic Acidemia, including the MCEE gene. It also includes information on genetic testing available for these genes and the conditions they are related to. The catalog references scientific articles from PubMed and other databases, providing a reliable source of information for researchers and healthcare professionals.

In addition to Methylmalonic Acidemia, the catalog includes information on various other genetic conditions. Users can search the catalog for specific genes or diseases, and access detailed information on each entry. The catalog is regularly updated with new discoveries and advancements in the field of genetics.

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Overall, the catalog of genes and diseases from OMIM serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic conditions. It provides a comprehensive overview of genes associated with various diseases, as well as information on genetic testing and related scientific articles.

Gene and Variant Databases

When researching about the MCEE gene and related variants, it is important to consult various databases that provide information on genetic changes and their impact on health. These databases list different genes and variants that are associated with methylmalonyl-coa mutase enzyme (MCEE) and methylmalonic acidemia, which are conditions caused by changes in the MCEE gene.

One of the most comprehensive databases available is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genes and genetic conditions, including methylmalonic acidemia. It contains references to scientific articles, genetic testing resources, and additional resources for further exploration.

Another valuable resource is the PubMed database, which is a collection of scientific articles from various journals. Searching for specific gene names or variant names related to methylmalonic acidemia can provide a wealth of information on the topic.

The Human Gene Mutation Database (HGMD) is a catalog of gene variants associated with inherited diseases. It provides information on the genetic changes found in methylmalonyl-coa mutase enzyme and other genes related to methylmalonic acidemia. HGMD is regularly updated with new discoveries and is a reliable source of information.

The MCEE gene and its variants may also be listed in specific genetic databases. These databases focus on genetic information for specific diseases or conditions, and they provide more targeted information. Examples include the Genetic Testing Registry (GTR), which lists genetic tests available for methylmalonic acidemia, and the Methylmalonic Acidemia registry, which is a registry of people affected by the condition.

Overall, the gene and variant databases are essential resources for understanding the MCEE gene and its role in methylmalonic acidemia. They provide up-to-date information on genetic changes and their impact on health, as well as references to scientific articles for further reading.

References:

  1. Online Mendelian Inheritance in Man (OMIM) database – https://www.omim.org
  2. PubMed database – https://pubmed.ncbi.nlm.nih.gov
  3. Human Gene Mutation Database (HGMD) – https://www.hgmd.cf.ac.uk
  4. Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr
  5. Methylmalonic Acidemia registry – https://www.methylmalonicacidemia.org

References

  • Methylmalonyl-CoA mutase (MCEE) gene: Information about the MCEE gene can be found on various databases including OMIM and PubMed.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the MCEE gene and related genetic conditions such as methylmalonic acidemia.

  • PubMed: Scientific articles related to the MCEE gene, methylmalonyl-CoA mutase, and methylmalonic acidemia can be found on PubMed, a database of biomedical literature.

  • Methylmalonic acidemia: Testing for mutations in the MCEE gene is important for diagnosing methylmalonic acidemia and related conditions. This genetic testing can be performed in specialized laboratories and clinics.

  • Methylmalonyl-CoA mutase deficiency: Methylmalonic acidemia is caused by mutations in the MCEE gene, resulting in a deficiency of methylmalonyl-CoA mutase. This enzyme is involved in the breakdown of fats and certain amino acids in the body.

  • Genetic conditions: Methylmalonic acidemia is one of many genetic conditions caused by mutations in specific genes. Understanding the MCEE gene and related genes can provide insights into the development and management of these conditions.

  • Genetic testing and health: Genetic testing for mutations in the MCEE gene and other related genes can help in identifying individuals at risk for methylmalonic acidemia and other genetic diseases. This information can be used for early interventions and personalized healthcare.

  • Additional resources: In addition to OMIM and PubMed, there are various other databases, registries, and resources available that provide valuable information on the MCEE gene, methylmalonic acidemia, and related conditions.

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