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The MMACHC gene plays a crucial role in the trafficking of cobalamin, a type of vitamin B12, into cells and its conversion to methionine. Mutations in this gene have been listed in scientific databases such as OMIM and PubMed. These changes in the MMACHC gene can cause a variety of genetic diseases, including methylmalonic acidemia with homocystinuria.

Testing for variants in the MMACHC gene is available through genetic testing laboratories and can help diagnose and manage conditions related to cobalamin metabolism. Additionally, the MMACHC gene is one of several genes that have been associated with methylmalonic acidemia, a condition characterized by the inability to break down certain proteins and the buildup of methylmalonic acid in the body.

The role of the MMACHC gene in these diseases has been extensively studied, and there are numerous scientific articles and references available on the topic. The gene is also included in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource for information on genetic disorders.

For further information on the MMACHC gene and related conditions, additional testing, and genetic counseling, individuals can consult healthcare professionals and genetic testing laboratories. The National Institutes of Health Genetic and Rare Diseases Information Center (GARD) also provides helpful resources and support for individuals and families affected by these conditions.

The MMACHC gene plays a crucial role in cell health, specifically in the process of methylmalonyl-CoA and cobalamin (vitamin B12) trafficking to the mitochondria. Genetic changes in the MMACHC gene can lead to various health conditions and diseases.

One of the health conditions associated with MMACHC gene mutations is Methylmalonic Acidemia with Homocystinuria. This disorder is characterized by the inability of the body to break down protein building blocks (amino acids) properly, particularly methionine. This leads to the toxic buildup of methylmalonic acid and homocysteine in the blood.

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Additional health conditions related to MMACHC gene mutations include:

  • Methylmalonic acidemia
  • Homocystinuria

To obtain more information about these health conditions and genetic changes in the MMACHC gene, you can refer to the following resources:

  1. The MMACHC gene catalog
  2. The Online Mendelian Inheritance in Man (OMIM) database
  3. Scientific articles and references available on PubMed
  4. Genetic testing and diagnostic resources
  5. The Methylmalonic Acidemia and Homocystinuria Information and Registry (MMAHCI&R)

These resources can provide comprehensive information about the role of the MMACHC gene, associated health conditions, genetic testing options, and available treatment approaches.

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria (MMACHC) is a rare genetic condition that affects the body’s ability to process certain proteins and amino acids. It is caused by changes (variants) in the MMACHC gene.

Individuals with MMACHC have difficulty breaking down proteins containing methionine and methylmalonic acid. This leads to a buildup of these substances in the body, resulting in a range of health problems.

Scientific articles and resources on MMACHC and related conditions can be found in various databases, such as PubMed and OMIM. These databases provide information on the role of the MMACHC gene, as well as changes in other genes associated with methylmalonic acidemia and homocystinuria.

Testing for MMACHC variants and related proteins can be done through genetic testing. These tests can help diagnose the condition and provide additional information on the specific variant and its effects on health.

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In addition to genetic testing, other tests may be performed to evaluate the levels of methylmalonic acid, homocysteine, and other markers associated with the condition. These tests can help monitor the progression of the disease and guide treatment decisions.

Further research into MMACHC and related conditions is ongoing to better understand the underlying mechanisms and develop potential treatments. Scientists are investigating the role of MMACHC in cell trafficking and the transport of cobalamin (a form of vitamin B12).

Resources such as the MMACHC gene catalog and scientific articles can provide more detailed information on the genetics, biochemical changes, and clinical features of methylmalonic acidemia with homocystinuria.

Other Names for This Gene

  • methylmalonic acidemia and homocystinuria, type cblDv2;
  • methylmalonic aciduria and homocystinuria, type cblDv2;
  • Methylmalonic Aciduria, cblDv2 Type;
  • MMACHC gene;
  • methylmalonic acidemia and homocystinuria cblD type;
  • methylmalonic acidemia type XVIII
  • methylmalonic aciduria type XVIII;
  • Homocystinuria, Methylmalonic Acidemia cblD Type
  • Combined Deficiency of Methylmalonic Acidemia cblD Type and Homocysteine
  • Watkins Syndrome;
  • methylmalonic aciduria and homocystinuria D type;
  • combined methylmalonic aciduria and homocystinuria type D;
  • CblD;
  • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of AdoCbl;
  • methylmalonic acidemia, cblD type;
  • MMADHC;
  • methylmalonic aciduria Cbl D type;
  • methylmalonic acidemia, vitamin B12-responsive cblD;
  • methylmalonic acidemia/homocystinuria cblD type;
  • Methylmalonicaciduria and Homocystinuria cblD type;
  • methylmalonic academia and homocystinuria, cblD type;
  • Combined Deficiency of Methylmalonic Acidemia cblD Type and Homocystinuria cblD Type;
  • comb Diseases Catalog FriendlyName: “Homocystinuria due to defect in methylation cblD variant 2 with homocystinuria combined with methylmalonicacidemia”;
  • combined methylmalonic acidemia and homocystinuria cblD type;
  • cobalamin Lysosomal Metabolic Disorder

Additional Information Resources

There are several additional resources available for obtaining more information on the MMACHC gene and related health conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic conditions and the associated genes. The OMIM entry for the MMACHC gene contains detailed information on the role of this gene in methylmalonic acidemia with homocystinuria.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including the MMACHC gene and related conditions. Searching for “MMACHC gene” or specific conditions like “methylmalonic acidemia” or “homocystinuria” in PubMed can provide more in-depth information on the topic.
  • Genetests: The Genetests website offers clinical and research information on genetic testing for various diseases, including those related to the MMACHC gene. This resource provides details on the tests available, testing laboratories, and resources for patients and healthcare providers.
  • Registry: There is a registry for methylmalonic acidemia with homocystinuria and related disorders, which can provide further information and support for individuals affected by these conditions. The registry collects data on patients and their medical history to further scientific research and understanding of these diseases.
  • Other Genetic Databases: Various genetic databases, besides OMIM, contain information on the MMACHC gene and related proteins. These databases include resources such as GenBank, Ensembl, and GeneCards, and provide details on genetic variations, protein trafficking changes, and the genetic role of the MMACHC gene.
  • Scientific Articles: Numerous scientific articles and studies have been published on the MMACHC gene and its role in methylmalonic acidemia with homocystinuria. These articles can be found by searching through scientific journals and databases, such as PubMed.

These resources can be valuable for obtaining more information on the MMACHC gene, related health conditions, and genetic testing options.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. This registry provides a comprehensive list of tests for various diseases and conditions caused by changes in the MMADHC gene.

The MMADHC gene is responsible for encoding the methylmalonic acidemia and homocystinuria type D protein. Variant genes in the MMADHC gene can lead to a variety of conditions and disorders, including methylmalonic acidemia and homocystinuria.

Genetic testing can provide valuable insights into the role of the MMADHC gene and its variants in these diseases. The testing involves analyzing the patient’s DNA to identify any changes or mutations in the gene.

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The Genetic Testing Registry lists the available tests for MMADHC gene-related conditions. The catalog includes the specific tests, the names of the genes involved, and references to scientific articles and resources for further information.

Some of the tests listed in the registry include:

  • Methylmalonic acidemia, cobalamin D type, with homocystinuria
  • Methylmalonic acidemia, cobalamin E type
  • Methylmalonic acidemia, cobalamin F type
  • Combined methylmalonic aciduria and homocystinuria

These tests help healthcare professionals diagnose and manage these conditions by determining the specific genetic changes and understanding their impact on protein trafficking and cobalamin (vitamin B12) metabolism. The information obtained from these tests can guide treatment decisions and offer insights into the prognosis and potential complications associated with these conditions.

In addition to the genetic testing registry, there are also other databases and resources available for further information on MMADHC gene-related diseases. These include OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide access to a wide range of articles and scientific research related to these conditions.

By utilizing these resources and genetic testing, healthcare professionals can gain a better understanding of the MMADHC gene and its variants in relation to methylmalonic acidemia and homocystinuria, leading to improved diagnosis, treatment, and management of these conditions.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide information on the MMACHC gene and its role in various diseases and health conditions. PubMed is a database that contains a vast collection of articles from scientific journals, providing a valuable resource for researchers and healthcare professionals.

Genes play a crucial role in the development and functioning of our bodies. In the case of the MMACHC gene, it is involved in the processing and trafficking of methylmalonic acid and homocysteine, which are important molecules in metabolism.

Multiple genetic changes or variants within the MMACHC gene have been identified, leading to conditions such as methylmalonic acidemia with homocystinuria (MMACHC-related cblC-type), also known as cobalamin C deficiency. This genetic condition affects the body’s ability to break down certain proteins and obtain energy from food, leading to a range of health problems.

The MMACHC gene is listed under different names, including Methylmalonic aciduria and homocystinuria type C protein and Methylmalonic aciduria and homocystinuria type D protein. The gene has been extensively studied, and scientific articles provide valuable insights into its structure, function, and associated diseases.

PubMed is a comprehensive platform that offers additional resources related to the MMACHC gene. The database includes references to other scientific articles, genetic testing information, and the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic conditions caused by MMACHC gene variants.

Scientific articles on PubMed also shed light on the role of MMACHC gene in the trafficking and processing of methylmalonic acid and homocysteine within cells. They discuss the impact of different gene variants and their association with specific health conditions.

Researchers and healthcare professionals can utilize the information available in scientific articles on PubMed to further understand the MMACHC gene and develop improved diagnostic tests and treatments for associated diseases. The articles provide valuable insights and contribute to ongoing research efforts in the field of genetics and health.

  1. Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Feb;38(2):93-100. doi: 10.1038/ng1716. PMID: 16311595.

  2. Watkins D, Rosenblatt DS. Inherited disorders of folate and cobalamin transport and metabolism. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Companies, Inc.; 2014.

  3. Kim J, Gherasim C, Banerjee R. Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A. 2008 Sep 9;105(36):14551-4. doi: 10.1073/pnas.0807326105. Epub 2008 Sep 2. PMID: 18765816; PMCID: PMC2529053.

  4. Mudd SH. Hypermethioninemias of genetic and non-genetic origin: A review. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):3-32. doi: 10.1002/ajmg.c.30303. PMID: 21495194; PMCID: PMC3091724.

References from Scientific Articles on PubMed:
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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the role of genes in various health conditions.

The MMACHC gene is listed in OMIM and is associated with several diseases, including methylmalonic acidemia with homocystinuria, cobalamin C defect, and cobalamin G defect. These conditions are characterized by changes in the metabolism of methylmalonyl-CoA and cobalamin, resulting in a variety of symptoms and health complications.

OMIM provides detailed information on these diseases and related genes, including variant names, protein products, and molecular functions. It also includes references to scientific articles and additional resources for more in-depth research.

The OMIM catalog can be used to search for specific genes or diseases, and provides links to other databases such as PubMed and Genetests for further information. This allows researchers and clinicians to access a wealth of information on genetic conditions and develop targeted testing and treatment strategies.

Overall, OMIM serves as a valuable tool in the field of genetics, providing a comprehensive catalog of genes and diseases and facilitating research and clinical practice.

Gene and Variant Databases

Methylmalonic acidemia and homocystinuria, cobalamin C type (MMACHC) is a gene that plays a vital role in the trafficking and metabolism of cobalamin (vitamin B12) inside cells. Changes in this gene can lead to various conditions and diseases related to cobalamin metabolism.

Gene and variant databases are valuable resources that provide additional information on the MMACHC gene and its variants. These databases list the scientific names of the gene, variant names, and their associated genet and protein changes.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic disorders and traits. OMIM provides comprehensive information on genetic conditions associated with changes in the MMACHC gene.

PubMed, a popular database of scientific articles, also contains references to articles that discuss the role of MMACHC and its variants in various diseases and conditions.

In addition to these databases, there are also genetic testing resources available for MMACHC-related conditions. These resources offer diagnostic tests to detect changes in the MMACHC gene and provide health professionals with information for genetic counseling and management of affected individuals.

Furthermore, there are gene and variant databases that focus on specific diseases or conditions, such as homocystinuria and methylmalonic acidemia. These databases list known variants and their associated genet and protein changes, allowing researchers and healthcare professionals to further understand the genetic basis of these conditions.

Gene and Variant Databases for MMACHC:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • Genetic Testing Registry
  • Homocystinuria and Methylmalonic Acidemia Gene Variant Databases

These databases provide a wealth of information on the MMACHC gene and its variants, facilitating research and clinical efforts in understanding and managing cobalamin-related conditions.

References

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