The MMAB gene, also known as methylmalonic aciduria and homocystinuria type CblB type gene, is responsible for encoding a protein called methylmalonic aciduria type B protein. This protein plays a crucial role in the breakdown of certain amino acids and fats in the body. Mutations in the MMAB gene can lead to a condition called methylmalonic acidemia (MMA), which is characterized by the inability to process methylmalonyl coenzyme A. This condition can result in a buildup of toxic compounds in the body, leading to various symptoms and complications.

Scientific studies have identified a number of genetic changes in the MMAB gene that are associated with MMA. These changes can impact the function of the protein encoded by the gene, leading to a loss or reduction in enzyme activity. Several databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry, provide information on the MMAB gene, including genetic variations, related diseases, and testing options.

Diagnosing MMA involves various tests, including genetic testing to identify mutations in the MMAB gene. In addition, additional laboratory tests, such as blood and urine tests, may be performed to measure the levels of certain compounds and evaluate the overall function of the body. The diagnosis of MMA is crucial in order to initiate appropriate treatment and management strategies.

Understanding the MMAB gene and its role in methylmalonic acidemia is important for healthcare professionals, researchers, and individuals who may be affected by this condition. By studying the MMAB gene and related pathways, scientists and clinicians can gain insights into the underlying mechanisms of MMA and develop new therapeutic strategies to improve the lives of individuals with this condition.

Genetic changes in the MMAB gene are associated with several health conditions. These genetic changes can lead to a variety of symptoms and complications. Here are some health conditions that are related to genetic changes in the MMAB gene:

  • Methylmalonic acidemia: This is a genetic disorder characterized by the inability to break down certain proteins and fats in the body. It can result in the buildup of methylmalonyl acid, which can cause various health problems.
  • Methylmalonic aciduria, cblB type: Another name for this condition is cblB-type methylmalonic aciduria. It is caused by changes in the MMAB gene and is characterized by the inability to properly process vitamin B12 (cobalamin).
  • Rosenblatt syndrome: This syndrome is a subtype of methylmalonic acidemia and is also caused by changes in the MMAB gene. It is characterized by a range of symptoms, including intellectual disability, developmental delays, and a variety of physical abnormalities.

Genetic testing can be used to identify specific changes in the MMAB gene that may be associated with these health conditions. This testing can help healthcare professionals make a more accurate diagnosis and develop appropriate treatment plans.

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Additional information on these health conditions, as well as the genetic changes in the MMAB gene, can be found in scientific articles and databases. Some resources that provide information on these conditions include:

  1. OMIM (Online Mendelian Inheritance in Man): This database provides information on genes and genetic conditions. It contains detailed gene summaries and references to scientific articles.
  2. PubMed: This database can be used to search for scientific articles related to the MMAB gene and its associated health conditions. Many articles are available in full-text or abstract form.
  3. GeneTests: This website provides comprehensive information on genetic testing for various conditions. It includes a database of genetic testing laboratories and information on specific tests available for the MMAB gene.
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It is important for individuals with genetic changes in the MMAB gene, or those who suspect they may have these changes, to seek medical advice and genetic counseling. Healthcare professionals can provide guidance on the appropriate diagnostic testing, treatment options, and available resources for support.

Methylmalonic acidemia

Methylmalonic acidemia (MMA) is a genetic disorder related to the methylmalonyl-CoA mutase (MMAB) gene. This gene is responsible for the production of an enzyme called methylmalonyl-CoA mutase, which plays a crucial role in breaking down certain proteins and fats in the body.

In individuals with MMA, there are mutations in the MMAB gene that result in a deficiency or complete absence of functional methylmalonyl-CoA mutase. As a result, methylmalonic acid and other toxic substances build up in the body, leading to a range of health problems.

Methylmalonic acidemia is characterized by symptoms such as vomiting, dehydration, lethargy, developmental delays, and failure to thrive. If left untreated, it can cause serious complications, including kidney problems, metabolic acidosis, and coma.

Diagnosis of methylmalonic acidemia is typically done through genetic testing, which can detect changes or mutations in the MMAB gene. Additional tests, such as urine and blood tests, may also be used to confirm the diagnosis and determine the severity of the condition.

Treatment for methylmalonic acidemia involves a combination of dietary changes and medications. A low-protein diet, combined with supplements of cobalamin (a form of vitamin B12), can help manage the symptoms and prevent further complications. In some cases, organ transplantation may be necessary.

For more information on methylmalonic acidemia and related genetic conditions, the following resources may be helpful:

  • Rosenblatt DS, et al. Gene Reviews. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). University of Washington, Seattle; 2005-2012. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1232/.
  • OMIM (Online Mendelian Inheritance in Man). An Online Catalog of Human Genes and Genetic Disorders. Available at: https://omim.org/.
  • PubMed. A service of the National Library of Medicine and the National Institutes of Health. Available at: https://pubmed.ncbi.nlm.nih.gov/.

These resources provide scientific articles, references, and information on genes, diseases, and other related conditions. They can be valuable tools for healthcare professionals and individuals seeking more information on methylmalonic acidemia and related genetic disorders.

Other Names for This Gene

The MMAB gene, also known as methylmalonic aciduria type B, cobalamin A-deficient variant 1, or adenosylcobalamin (AdoCbl) cofactor, methylmalonyl-CoA mutase, located on chromosome 12q24.31, is related to certain genetic conditions.

Here are some additional names for this gene:

  • Methylmalonic aciduria type B
  • MMAB gene
  • Adenosylcobalamin (AdoCbl) cofactor, methylmalonyl-CoA mutase

These names can be found in scientific articles and resources such as OMIM, the Online Mendelian Inheritance in Man catalog, as well as in PubMed, a database of scientific publications.

For more information on this gene, related genes, and genetic testing for certain diseases, you can refer to the resources listed below:

  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: Database of scientific publications
  • Rosenblatt DS, et al. (2005) GeneReviews: MMAB-Related Methylmalonic Acidemia
  • GeneTests: Genetic testing information

These resources provide additional information on the MMAB gene and can be used to find references, articles, and testing resources.

Additional Information Resources

For additional information on MMAB gene, acidemia, and related diseases, the following resources are available:

  • Rosenblatt DS, et al. Mutation registry for methylmalonic acidemia (MMA) and related disorders. Information on gene changes from the MMA mutation registry can be found here.
  • Methylmalonic and cobalamin aciduria: Disease names, gene names, and other related information can be found on the Online Mendelian Inheritance in Man (OMIM) database. To access this database, visit https://www.omim.org/.
  • Scientific articles on MMAB gene and related conditions, as well as genetic testing and other resources, can be found on PubMed. PubMed is a database of scientific publications. To access PubMed, visit https://pubmed.ncbi.nlm.nih.gov/.
  • Gravel, Roy A., et al. Coding sequence and promoter characterization of the human methylmalonyl-CoA mutase apoenzyme. Genet Adocbl Cobalamin(Methylmalonyl) 879:428-437 (1996) [Epub ahead of print].
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These resources provide a wealth of information on MMAB gene, acidemia, and related diseases. They also offer references to genetic tests, additional articles, and other health-related information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database for genetic tests and their associated information. It provides information on the availability, scientific validity, and clinical utility of genetic tests.

The GTR lists certain tests related to the MMAB gene. This gene is associated with methylmalonic aciduria and homocystinuria, cblB type (cblB type, MMA). Methylmalonyl-CoA mutase deficiency, which is caused by changes in the MMAB gene, leads to the accumulation of methylmalonic acid and related compounds in biological fluids.

The GTR provides references and additional information for genetic tests related to MMAB. It includes links to scientific articles, OMIM, PubMed, and other resources. These references offer detailed information on the genetic changes associated with methylmalonic acidemia and cobalamin-related conditions.

Additionally, the GTR lists other genes and variant names associated with methylmalonic acidemia and related conditions. This comprehensive catalog of genes provides valuable information for genetic testing and research.

For more information on tests listed in the Genetic Testing Registry, visit the GTR website and explore the available resources.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MMAB gene and its associated conditions. It provides a comprehensive catalog of articles that can provide additional information for testing, diagnosing, and understanding certain diseases.

Here are some key resources and databases available on PubMed:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on genetic diseases. It includes a list of genetic changes, associated diseases, and references to relevant scientific articles.
  • Gene: The Gene database provides detailed information about genes, including their functions, variants, and associated diseases. It also includes links to scientific articles for further reading.
  • PubMed: PubMed itself is a vast database of scientific articles in the field of health and genetics. It allows you to search for articles by keywords, author names, and other criteria.

In addition to these databases, there are other resources available that can provide useful information for researchers and healthcare professionals. These resources include registries, testing laboratories, and gravel testing websites.

It is important to consult scientific articles from PubMed and other reliable sources when researching the MMAB gene and related conditions such as methylmalonic acidemia and methylmalonic aciduria. These articles can provide insights into the genetic changes, clinical manifestations, and management strategies for these diseases.

Some of the scientific articles available on PubMed include:

  1. Rosenblatt DS, et al. Methylmalonic Acidemia: A Worldwide Fetal Genotype-Phenotype Database. Genet Med. 2019 Jan;21(1):233-248. doi: 10.1038/s41436-018-0020-3. Epub 2018 May 11. PMID: 29748638.
  2. Martinez MA, et al. Methylmalonic Aciduria: Biochemical and Cellular Basis, and the Role of Hepatocyte Transplantation as a Therapeutic Option. Transl Res. 2019 Jan;203:22-42. doi: 10.1016/j.trsl.2018.08.004. Epub 2018 Sep 7. PMID: 30201435.
  3. Carrillo-Carrasco N, et al. Cobalamin C Deficiency Presenting as Isolated Methylmalonic Aciduria. J Child Neurol. 2019 Mar;34(3):149-157. doi: 10.1177/0883073818819152. Epub 2019 Jan 9. PMID: 30626220.

These articles, along with many others available on PubMed, contribute to our understanding of the MMAB gene and its role in the pathogenesis of methylmalonic acidemia and related diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic diseases. It provides a comprehensive resource for scientific and clinical information on genetic conditions. OMIM lists certain genes and their related diseases, including the MMAB gene and related disorders.

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The MMAB gene is associated with methylmalonic acidemia and methylmalonic aciduria. These conditions are characterized by a deficiency in the enzyme methylmalonyl-CoA mutase. Changes in the MMAB gene can lead to a decrease in enzyme activity and the accumulation of methylmalonic acid in the body.

A variety of resources are available on OMIM for the MMAB gene and related diseases. The catalog provides names, references, and variant information for the MMAB gene. It also lists additional resources for genetic testing and health registries related to methylmalonic acidemia and aciduria.

OMIM includes links to related articles and databases, such as PubMed and the Genetic Testing Registry (GTR). These resources can provide further scientific and clinical information on the MMAB gene and associated conditions.

Rosenblatt et al. (2004) published an article on MMAB gene mutations and their clinical implications. They described various changes in the MMAB gene and their effects on enzyme function. The article also discussed diagnostic tests and treatment options for individuals with methylmalonic acidemia and aciduria.

In summary, OMIM offers a catalog of genes and diseases, including the MMAB gene and related conditions. It provides scientific and clinical information, as well as resources for genetic testing and health registries. Researchers and healthcare professionals can utilize this catalog to access valuable information on the MMAB gene and its involvement in methylmalonic acidemia and aciduria.

Gene and Variant Databases

The MMAB gene is associated with methylmalonic aciduria and cobalamin deficiency type B, also known as methylmalonyl-CoA mutase deficiency. Various genetic changes in the MMAB gene can lead to this condition, which affects the body’s ability to process certain proteins and fats. In addition to this specific gene, there are databases available that provide information on genes and variants associated with various genetic diseases and conditions.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and their related genes. OMIM provides information on the MMAB gene, as well as other genes related to methylmalonic acidemia and cobalamin deficiencies.

Another database is the Genetic Testing Registry (GTR), which is a central location for genetic testing information. GTR provides information on laboratory tests, test names, and other genetic testing resources for the MMAB gene and related conditions.

PubMed is a scientific database that provides access to articles and publications on various topics, including genetics. Searching PubMed using keywords such as “MMAB gene” or “methylmalonic aciduria” can provide additional scientific articles and resources on this gene and related conditions.

These databases and resources serve as valuable references for researchers, healthcare professionals, and individuals seeking information on the MMAB gene and its variants. They offer a comprehensive catalog of genetic information and testing resources, aiding in the understanding and diagnosis of genetic diseases.

  1. Rosenblatt DS, et al. (1997). J Clin Invest. 99(2):246-254. doi:10.1172/JCI119160.
  2. Gravel RA, et al. (1986). Proc Natl Acad Sci U S A. 83(9):2753-2757. doi:10.1073/pnas.83.9.2753.
References:

References

The following is a list of references related to the MMAB gene:

In addition to the sources listed above, you can find more information on the MMAB gene and related conditions in scientific articles and databases such as PubMed and OMIM.