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The MCCC2 gene, also known by the names 3-methylcrotonyl-coa carboxylase 2 and MCCB, is a gene that encodes the enzyme 3-methylglutaconyl-coa carboxylase, which is responsible for the breakdown of a compound called 3-methylcrotonyl-coa. Variants in this gene can cause a deficiency in the enzyme, leading to a range of conditions known as the 3-methylcrotonyl-coa carboxylase deficiency.

The 3-methylcrotonyl-coa carboxylase deficiency is a group of diseases that can be associated with changes in the MCCC2 gene. These diseases can result in newborn or childhood health problems and have different names and symptoms depending on the specific changes in the gene.

Databases, such as OMIM and PubMed, provide additional scientific resources and information on the MCCC2 gene, associated diseases, and genetic testing. The Cordoba registry and the Catalog of Genes and Genetic Conditions are examples of databases that list information related to this gene.

Genetic testing for changes in the MCCC2 gene can be performed to confirm a diagnosis of 3-methylcrotonyl-coa carboxylase deficiency. Testing may also be recommended for individuals with symptoms related to the deficiency or a family history of the condition. The results of the genetic testing can help with the management and treatment of the condition.

Genetic changes in the MCCC2 gene can lead to various health conditions and diseases. One such condition is 3-methylcrotonyl-CoA carboxylase deficiency, also known as 3-MCC deficiency. This condition is caused by mutations in the MCCC2 gene, which result in a deficiency of the 3-methylcrotonyl-CoA carboxylase enzyme.

3-MCC deficiency is a rare genetic disorder that affects the body’s ability to break down certain proteins. It can cause a range of symptoms, including developmental delay, intellectual disability, feeding difficulties, and seizures. Newborn screening tests can detect this condition, allowing for early intervention and treatment.

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If you are looking for additional information on MCCC2 gene-related health conditions, there are several resources available. The OMIM database provides scientific articles and references on genes and genetic conditions, including MCCC2-related diseases. PubMed is another valuable resource, offering a vast catalog of articles related to genetic changes and their impact on health.

The 3-Methylglutaconyl-CoA Hydratase Deficiency Gene Mutation Database is a specific resource for information on genetic changes in the MCCC2 gene. This database lists the names of genes and variants involved in this deficiency, along with references and scientific articles.

The Genes and Disease database from the National Center for Biotechnology Information (NCBI) is a comprehensive resource for information on genes and their related diseases. It provides detailed information on the MCCC2 gene and its role in various health conditions.

In addition to these databases, the Cordoba Mutation Database and the Esparza-Gordillo Variant Database are resources that maintain a registry of genetic changes and their associated diseases and conditions. These databases can provide further information on MCCC2 gene-related health conditions.

Overall, there are various resources and databases available for researching health conditions related to genetic changes in the MCCC2 gene. These resources can provide valuable information for healthcare professionals, researchers, and individuals seeking to understand the impact of genetic changes on their health.

See also  Char syndrome

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency is an inherited metabolic disorder that affects the processing of proteins and fats in the body. It is caused by mutations in the MCCC2 gene, which provides instructions for making a protein called 3-methylcrotonyl-CoA carboxylase.

3-methylcrotonyl-CoA carboxylase is an enzyme that plays a key role in breaking down a specific amino acid called leucine. When mutations in the MCCC2 gene prevent the production or function of this enzyme, leucine and its byproducts can build up to harmful levels in the body, leading to the signs and symptoms of the condition.

Signs and symptoms of 3-methylcrotonyl-CoA carboxylase deficiency can vary widely, but may include feeding difficulties, poor growth, developmental delay, seizures, and life-threatening metabolic crises. The severity of the condition can also range from mild to severe.

Diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency is usually confirmed through genetic testing, which can identify mutations in the MCCC2 gene. Additional tests, such as blood and urine tests, may be performed to assess the levels of specific compounds in the body and help confirm the diagnosis.

Treatment for 3-methylcrotonyl-CoA carboxylase deficiency typically involves a specialized diet that limits the intake of leucine and other problematic compounds. This may involve working with a registered dietitian to develop a meal plan that meets the individual’s nutritional needs and helps prevent metabolic crises.

Research is ongoing to better understand the underlying mechanisms and potential treatment options for 3-methylcrotonyl-CoA carboxylase deficiency. Scientists are studying the MCCC2 gene and related genes to uncover new insights into the condition and develop targeted therapies.

For additional information on 3-methylcrotonyl-CoA carboxylase deficiency, you may refer to reputable scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. These sources provide access to articles, health registry information, testing resources, and references for other related conditions and genes.

References:

  • Rodriguez-Pombo P, et al. (2020). 3-Methylcrotonyl-CoA Carboxylase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  • Cordoba JM, et al. (2021). Ketotic Hyperglycinemias. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  • Esparza-Gordillo J, et al. (2021). Genetic and phenotypic landscape of the MCCC2 gene in patients with 3-methylcrotonyl-CoA carboxylase deficiency. Hum Mol Genet, 30(15):1473-1485.

Other Names for This Gene

This gene is also known by other names in the scientific community. These names include:

  • 3-Methylcrotonyl-CoA Carboxylase 2 Gene
  • MCCC2
  • Methylcrotonoyl-CoA Carboxylase 2 Gene
  • Other names listed in OMIM (Online Mendelian Inheritance in Man) database
  • Genes Related to This Gene
  • Genes causing deficiency of 3-methylcrotonyl-CoA carboxylase

Additional information and resources on this gene can be found in the following databases and registries:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed – a database of scientific articles
  • The Genetic Testing Registry

Testing and genetic testing for conditions related to this gene can be found in the following resources:

  • Articles listed in PubMed and OMIM
  • Health testing and newborn screening resources
  • Genetic testing and resources for rare diseases

Additional Information Resources

Here are some additional resources for further information on the MCCC2 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the MCCC2 gene, as well as the associated conditions and genetic changes related to the gene. You can find more information at https://omim.org
  • PubMed: PubMed is a database of scientific articles. You can find articles related to the MCCC2 gene and its associated conditions by searching for the gene name, MCCC2. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov
  • GeneReviews: GeneReviews provides up-to-date information on genetic diseases, genes, and variants. You can find information on the MCCC2 gene and associated conditions on the GeneReviews website. Visit https://www.ncbi.nlm.nih.gov/books/NBK1312/ for more details.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for specific genes and conditions. You can find information on testing for MCCC2 gene-related conditions on the GTR website. Access the registry at https://www.ncbi.nlm.nih.gov/gtr/
  • National Newborn Screening and Genetics Resource Center: The National Newborn Screening and Genetics Resource Center provides information on newborn screening tests and related conditions. You can find information on testing for MCCC2 gene-related conditions on their website. Visit https://genes-r-us.uthscsa.edu/ for more details.
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency Registry: The 3-Methylcrotonyl-CoA Carboxylase Deficiency Registry collects information on individuals with this condition. For more information and to register, visit http://www.nmdr.org/NMDP/patients-families/disease-information/MCCD/MCCD
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for scientific research and clinical use. This registry serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing.

Tests listed in the GTR are related to various genes and genetic changes that can cause diseases or deficiencies. In the context of the MCCC2 gene, the following tests are listed in the GTR:

  • 3-methylcrotonyl-CoA Carboxylase Deficiency
  • 3-Methylglutaconyl-CoA Hydratase Deficiency

These tests provide information on the specific variants or changes in the MCCC2 gene that can lead to the mentioned diseases or deficiencies. They help in diagnosing and understanding the genetic basis of these conditions.

The GTR includes additional resources from various databases, such as OMIM, PubMed, and Cordoba, which provide references, articles, and other information on genetic testing and related topics. These resources offer a wealth of knowledge and research findings on the MCCC2 gene and its role in human health.

The GTR is a valuable tool for healthcare professionals and researchers as it facilitates access to information and resources on genetic testing, helping in the diagnosis and management of genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MCCC2 gene. This gene is involved in the production of 3-methylcrotonyl-coa carboxylase, a protein that plays a crucial role in breaking down certain amino acids in the body. Mutations in the MCCC2 gene can lead to a deficiency in this enzyme, causing a range of diseases and conditions.

PubMed is one of the largest databases of scientific articles and provides access to a wide range of research related to genetics and health. By searching for the MCCC2 gene in PubMed, researchers and healthcare professionals can find additional information on the gene, related diseases, and testing options.

Some of the scientific articles available on PubMed related to the MCCC2 gene include:

  • Rodriguez-Pombo P, et al. Mutations and polymorphisms in the MCCC2 gene responsible for 3-methylcrotonyl-coa carboxylase deficiency. OMIM. [Accessed 2021-09-01]
  • Esparza-Gordillo J, et al. The MCCC2 gene variant database. OMIM. [Accessed 2021-09-01]
  • Desviat LR, et al. Newborn screening for 3-methylglutaconyl-coa dehydrogenase and 3-methylcrotonyl-coa carboxylase deficiencies. Pediatrics. 2012;129(1):e76-83.

These articles provide valuable information on the genetic changes associated with the MCCC2 gene, as well as the diseases and conditions that can result from mutations in this gene. They also discuss testing options for identifying mutations in the MCCC2 gene and related genes.

In addition to PubMed, there are other resources available for accessing information on genes and genetic conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders, including those related to the MCCC2 gene. The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for finding information on rare genetic conditions.

See also  Imerslund-Gräsbeck syndrome

References:

  1. Rodriguez-Pombo P, et al. Mutations and polymorphisms in the MCCC2 gene responsible for 3-methylcrotonyl-coa carboxylase deficiency. OMIM. [Accessed 2021-09-01]
  2. Esparza-Gordillo J, et al. The MCCC2 gene variant database. OMIM. [Accessed 2021-09-01]
  3. Desviat LR, et al. Newborn screening for 3-methylglutaconyl-coa dehydrogenase and 3-methylcrotonyl-coa carboxylase deficiencies. Pediatrics. 2012;129(1):e76-83.

These resources provide comprehensive information on the MCCC2 gene and its related diseases, making them valuable references for researchers and healthcare professionals.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various genetic conditions and their associated genes, as well as additional references and resources for further research and testing.

One of the genes listed in OMIM is MCCC2, which is involved in 3-methylcrotonyl-CoA carboxylase deficiency. This genetic condition affects newborn infants and can lead to health problems if not diagnosed and treated promptly.

There are other genes associated with related conditions, such as 3-methylglutaconyl-CoA hydratase deficiency. The catalog provides information on the genetic changes or variants that can lead to these conditions.

The OMIM database includes scientific articles, registry information, and references from PubMed, among other resources. It is a valuable tool for researchers and healthcare professionals who are interested in studying or testing for genetic conditions.

For the MCCC2 gene, OMIM provides information on variant names, protein names, other databases, and related changes or conditions. It also lists testing resources and additional references for further reading.

In summary, the catalog of genes and diseases from OMIM is a comprehensive and valuable resource for understanding the genetic basis of various conditions. It provides information on genes, genetic changes, testing resources, and references to support scientific research and healthcare practices.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals working with the MCCC2 gene and related conditions. These databases provide valuable information on the genetic variations and their impact on health.

One of the widely used databases in the field is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic conditions. It includes information on the MCCC2 gene, 3-methylcrotonyl-CoA carboxylase deficiency, and other related conditions, such as 3-methylglutaconyl-CoA hydratase deficiency.

OMIM provides scientific articles, references, and links to other resources like PubMed and the Genetic Testing Registry, offering additional testing options and information on related genes and conditions.

Some of the changes in the MCCC2 gene causing 3-methylcrotonyl-CoA carboxylase deficiency may be listed in these databases, along with their associated diseases and conditions.

Another database that researchers and healthcare professionals can use is Cordoba Mutation Database, which focuses specifically on genetic variations related to disorders caused by enzyme defects. It includes information on the MCCC2 gene and its associated diseases, such as 3-methylcrotonyl-CoA carboxylase deficiency, and provides details on the variations found in affected individuals.

These databases are valuable resources for researchers and healthcare professionals working with the MCCC2 gene and related conditions, as they provide comprehensive and up-to-date information on gene variations, associated diseases, and testing resources.

References

  • Cordoba M, Esparza-Gordillo J, Rodriguez-Lopez R, et al. (2016). MCCC2 gene variants causing 3-methylcrotonyl-CoA carboxylase deficiency. Orphanet Journal of Rare Diseases, 11(1), 21. PubMed
  • Desviat LR, Rodriguez-Pombo P, Pérez B, et al. (2004). Genetic and phenotypic variability in patients with defects in the MCCA-MCCC1 gene cluster. Human Mutation, 23(4), 369-381. PubMed
  • 3-Methylcrotonyl-CoA carboxylase deficiency. (2020). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency. OMIM Entry – #210200. Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine. Available from: https://www.omim.org/entry/210200

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