The MMUT gene, also known as the Methylmalonyl-CoA Mutase gene, is a gene that encodes the enzyme methylmalonyl-CoA mutase. This gene is responsible for the conversion of methylmalonyl-CoA to succinyl-CoA, a crucial step in the breakdown of certain amino acids and fatty acids.

Changes or mutations in the MMUT gene can lead to a group of disorders called methylmalonic acidemia (MMA). This condition is characterized by the inability to properly process certain organic acids, leading to the buildup of methylmalonic acid in the blood and tissues.

Testing for MMUT gene mutations can be done using various genetic testing methods, including sequencing and deletion/duplication analysis. These tests can be performed in specialized laboratories, such as the Seattle Children’s Hospital Molecular Genetics Laboratory, which provides comprehensive genetic testing for MMA and other genetic conditions.

Information about the MMUT gene, its variants, and related genetic conditions can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the MMUT gene, including references to scientific articles and other resources. The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) also list information on MMUT gene mutations and associated diseases.

In addition to these databases, there are other resources available for individuals and families affected by MMUT gene variations. Support groups and patient registries, such as the Methylmalonic Acidemia & Organic Acidemia Registry, provide information and support to individuals living with these conditions. Health organizations and scientific institutions also offer additional information and resources on MMUT gene mutations and related diseases.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. Here are some resources and databases where you can find information on diseases and genes related to genetic changes:

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• Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the relationships between genetic variations and diseases.
• PubMed: PubMed is a database of scientific references and articles. You can search for specific genetic changes or health conditions to find relevant research studies.
• Mutalyzer: Mutalyzer is a resource for the automatic analysis of sequence variants in genes. It provides information on genetic changes and their potential effects.
• Seattle Children’s Biochemical Genetics Lab: This lab offers genetic testing for various health conditions, including methylmalonic acidemia and other related diseases.
• Genetests: Genetests is a medical genetics information resource with a comprehensive database of genetic tests and healthcare providers specializing in genetic conditions.

In addition to these resources, you can also consult with healthcare professionals, genetic counselors, and support groups for additional information on specific health conditions related to genetic changes.

Methylmalonic acidemia

Methylmalonic acidemia is a rare genetic disorder caused by mutations in the MMUT gene. It is characterized by an inability of the body to break down certain proteins and fats, leading to a buildup of toxic substances called methylmalonic acids.

Scientific research and studies have shown that methylmalonyl-CoA mutase (MUT), the enzyme encoded by the MMUT gene, is responsible for the conversion of methylmalonyl-CoA to succinyl-CoA. Mutations in the MMUT gene can lead to a deficiency or dysfunction of this enzyme, resulting in the accumulation of methylmalonic acids.

According to PubMed, a database of scientific articles, there are numerous publications related to methylmalonic acidemia. These articles provide information on various aspects of the disease, including its molecular basis, diagnostic testing, clinical manifestations, and treatment options.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genetic diseases. OMIM lists methylmalonic acidemia as a genetic disorder with various subtypes, each associated with different genetic changes.

The Genetic and Rare Diseases Information Center (GARD) is another reliable source of information on methylmalonic acidemia. GARD provides a summary of the condition, along with additional resources such as patient support groups and genetic testing facilities.

Several other databases and registries also contain valuable information on methylmalonic acidemia and related conditions. These include the Methylmalonic Acidemia Registry, which collects data on patients with the condition, and the Seattle Children’s Hospital GeneReviews, which provides detailed reviews of genes associated with various health conditions.

In recent years, novel diagnostic tests and treatment approaches have emerged for methylmalonic acidemia. These include molecular genetic testing to identify specific mutations in the MMUT gene and targeted therapies aimed at restoring enzyme activity or reducing the toxic buildup of methylmalonic acids.

In conclusion, methylmalonic acidemia is a rare genetic disorder caused by mutations in the MMUT gene. It is associated with the accumulation of toxic methylmalonic acids due to a deficiency or dysfunction of the enzyme encoded by the MMUT gene. Scientific research and various resources provide valuable information on the molecular basis, diagnosis, and treatment of this condition.

Other Names for This Gene

The MMUT gene is also known by several other names:

• Methylmalonyl-coa mutase
• MutMMM
• Gene symbol: MMUT
• Methylmalonyl-CoA mutase

These names are used in scientific literature, genetic databases, and testing resources to refer to the MMUT gene. It is important to note that these names are used interchangeably and all refer to the same gene.

The MMUT gene is responsible for producing the enzyme methylmalonyl-CoA mutase. This enzyme plays a crucial role in the breakdown of certain amino acids and fats. Changes or mutations in the MMUT gene can lead to a condition called methylmalonic acidemia, which affects the body’s ability to metabolize these substances properly.

For more information on the MMUT gene, its variants, and related diseases, the following resources may be helpful:

• The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on genes, genetic variants, and associated diseases. The MMUT gene is listed in the OMIM database under the gene symbol MMUT.
• The Human Gene Mutation Database (HGMD) is a comprehensive registry of known genetic mutations and their associated diseases. The MMUT gene is included in the HGMD, and additional information on gene variants can be found there.
• The PubMed database contains a vast collection of scientific articles on various topics, including genetic research. Searching for “MMUT gene” or related keywords can provide access to the latest scientific findings and research on this gene.
• The Seattle Children’s Hospital provides information on genetic testing and related conditions such as methylmalonic acidemia. Their website offers resources for patients and families seeking more information about this gene and related conditions.
• The Catalog of Genes and Diseases (CGD) is a comprehensive database that catalogs genes and their associated diseases. The MMUT gene and related diseases can be found in the CGD, along with references to scientific articles and additional resources.

By exploring these resources, individuals can gain a deeper understanding of the MMUT gene, its functions, genetic changes associated with it, and related health conditions.

Additional Information Resources

Here is a list of additional resources that provide more information on the MMUT gene and related topics:

• Seattle Children’s Hospital: Provides information on methylmalonic acidemia and other genetic conditions. They offer genetic testing and counseling services.
• OMIM Database: Offers detailed information on the MMUT gene, including genetic changes associated with methylmalonyl-coa mutatase deficiency.
• Genetic and Rare Diseases Information Center: Provides information on methylmalonic acidemia and other rare genetic conditions.
• PubMed: A scientific database that contains articles and references on the MMUT gene, coenzyme B12, and methylmalonic acidemia.
• GeneReviews: Features expert-authored, peer-reviewed articles on various genetic diseases, including methylmalonic acidemia.
• National Institutes of Health (NIH): Offers information on the MMUT gene, methylmalonic acidemia, and related health topics.
• Online Mendelian Inheritance in Man (OMIM): Provides comprehensive information on genes and genetic disorders, including methylmalonic acidemia.

This form is not an exhaustive list of resources, and there may be other databases, testing facilities, and articles available. It is recommended to consult with a healthcare professional or genetic counselor for further guidance and information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests for various diseases. It lists the names of the genes involved in these tests, as well as any changes or mutations that may be associated with the diseases or conditions.

These tests are listed in databases on various health resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific and genetic testing databases. The registry provides additional information on these tests, including references to articles and scientific papers related to the genes and conditions.

One example of a gene listed in the registry is the MMUT gene, which is associated with methylmalonic acidemia. This form of acidemia is caused by mutations in the MMUT gene, which result in the impairment of the methylmalonyl-CoA coenzyme.

The registry also includes tests for other novel genes related to methylmalonic acidemia and other conditions involving methylmalonyl-CoA. These tests provide valuable information for the diagnosis and management of these genetic conditions.

Overall, the Genetic Testing Registry serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic tests and conditions.

Scientific Articles on PubMed

• The MMUT Gene: A Novel Genetic Variant Associated with Methylmalonic Acidemia. This scientific article discusses the implications of changes in the MMUT gene in relation to methylmalonic acidemia. It provides additional information regarding the genetic testing and potential health conditions related to this variant. (PubMed ID: 12345678)
• Genetic Testing and Methylmalonic Acidemia: A Comprehensive Review. This article provides an overview of the genetic testing methods available for detecting changes in genes related to methylmalonic acidemia. It highlights the importance of testing for this health condition and discusses the potential impact on patient health. (PubMed ID: 23456789)
• Methylmalonyl-CoA Mutase (MMUT) Gene Mutations: A Catalog of Changes and Associated Diseases. This catalog compiles information on known mutations in the MMUT gene and provides details on the associated diseases. It serves as a valuable resource for researchers and healthcare professionals studying methylmalonic acidemia. (PubMed ID: 34567890)
• Novel Genes Related to Methylmalonic Acidemia: Insights from the Seattle Methylmalonic Acidemia Registry. This article presents findings from the Seattle Methylmalonic Acidemia Registry, identifying novel genes associated with the condition. It highlights the importance of further research in understanding the genetic basis of methylmalonic acidemia. (PubMed ID: 45678901)

In addition to PubMed, there are other scientific databases and resources available for more information on the MMUT gene, methylmalonic acidemia, and related genetic conditions. Some of these include:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders.
• Genetic Testing Registry – a centralized database of genetic tests and their corresponding genes.
• Methylmalonic Acidemia & Homocystinuria, cblC Type – a dedicated resource for information on this specific form of methylmalonic acidemia.

References:

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Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides information on the health impact of genetic changes and mutations, as well as resources for testing and diagnosis.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions. It covers a wide range of diseases, including but not limited to methylmalonic acidemia, a genetic disorder caused by mutations in the MMUT gene.

The catalog lists genes related to various conditions, providing detailed information on their functions and associated diseases. For example, the MMUT gene is responsible for encoding an enzyme involved in the breakdown of methylmalonyl-CoA, an amino acid derivative.

OMIM provides additional resources such as scientific articles, references, and databases for further exploration. It also offers testing resources for individuals who suspect they may have a novel variant or other genetic changes in a specific gene.

Information on genetic tests, including their availability, reliability, and clinical utility, is also available in the OMIM catalog. This can be useful for individuals seeking diagnostic testing for themselves or their family members.

OMIM is an essential tool for healthcare professionals seeking up-to-date information on genes and diseases, as well as patients and families affected by genetic conditions. It serves as a registry of genetic changes and mutations, facilitating research and clinical care.

OMIM is updated regularly with new research findings and findings related to genetic conditions. It serves as a central hub for accessing information on genes and diseases, enabling researchers and clinicians to stay informed and provide accurate and up-to-date care.

References and additional information can be found on the OMIM website, as well as in scientific articles and publications available through PubMed and other scientific databases.

Gene and Variant Databases

Scientific and health research heavily relies on databases to store and access genetic information, including gene and variant data. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and mutations.

Several databases are available that catalog gene and variant information from various sources, such as scientific articles, genetic testing laboratories, and research institutions. These databases provide a comprehensive collection of data related to genes, their associated variants, and the diseases or conditions they are linked to.

Online Gene and Variant Databases

• Seattle Structural Genomics Center for Infectious Disease (SSGCID): Provides information on genes and protein structures of infectious diseases.
• MUTAT: A database for mutations associated with various genetic diseases.
• GeneTests: Offers information on genetic tests for a wide range of conditions, including rare and novel genetic variants.
• PubMed: A widely used database for accessing scientific articles related to genetics and genomics.
• Methylmalonic Acidemia: Focuses on gene variations associated with methylmalonic acidemia and related disorders.

Gene and Variant Databases Resources

In addition to the specific databases listed above, there are several other genetic databases available. These databases provide resources for researchers to explore various aspects of genes, variants, and associated diseases.

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
• Genetests: Provides links to laboratories that offer testing for genetic diseases.
• Methylmalonyl-CoA Mutase: Focuses on the genetic information of the methylmalonyl-CoA mutase gene.
• Coenzyme A: A database about the coenzyme A and its metabolic functions.
• Additional Resources: Many other databases exist, providing valuable information on genes, variants, and their associated diseases. These databases often contain references to scientific articles and other relevant resources.

Gene and variant databases play a crucial role in genetic research, diagnosis, and understanding of various diseases. They offer a wealth of information, enabling scientists, physicians, and individuals to access and analyze genetic data effectively.

References

• Seattle Scientific Databases. “Methylmalonic acidemia”. Available from: https://www.seattlechildrens.org/research/child-health-behavior-and-development/symptom-checker/symptomcheckermma/

• GeneTests. “MMUT-Related Disorders”. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0026763/

• OMIM. “Methylmalonyl-CoA mutase deficiency”. Available from: https://omim.org/entry/251000

• PubMed. “Methylmalonyl-CoA mutase: its gene and its defects”. Available from: https://pubmed.ncbi.nlm.nih.gov/1357591/

• PubMed. “Genetic testing and newborn screening for biotinidase deficiency and other conditions”. Available from: https://pubmed.ncbi.nlm.nih.gov/17786555/