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The MMADHC gene, also known as methylmalonic aciduria and homocystinuria type D, is a gene that encodes the MMADHC protein. This protein is involved in the metabolism of methylmalonic acid and cobalamin (vitamin B12) and regulates the levels of these substances in the body. Variants in the MMADHC gene can lead to a range of conditions, including methylmalonic acidemia, homocystinuria, and cobalamin D deficiency.

The MMADHC gene has been the focus of scientific research, with numerous articles and resources available to provide information on the gene, its variants, and the related conditions. The MMADHC gene is listed in various genetic databases and registries, such as OMIM and PubMed, where researchers can find additional references and molecular changes associated with this gene.

Testing for variants in the MMADHC gene can be used to diagnose and determine the genetic cause of conditions such as methylmalonic acidemia, homocystinuria, and cobalamin D deficiency. These tests are important for both individual health and research purposes, as they can provide insight into the molecular changes that impairs the metabolism of methylmalonic acid and cobalamin.

In addition to testing, there are resources available that provide information and support for individuals and families affected by conditions related to the MMADHC gene. These resources include health organizations, support groups, and online communities that can offer guidance and assistance.

In conclusion, the MMADHC gene plays a crucial role in the metabolism of methylmalonic acid and cobalamin, and variants in this gene can lead to a range of conditions. Scientific research, testing, and resources are available to provide information, support, and diagnostic tools for individuals and families affected by these conditions. Further studies and research are ongoing to better understand the MMADHC gene and its role in related diseases and conditions.

The MMADHC gene is associated with various health conditions and diseases. This gene encodes a protein involved in the metabolism of methylmalonic acid and cobalamin (vitamin B12). Mutations or genetic changes in the MMADHC gene can lead to impairment in these processes and result in the following conditions:

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  • Methylmalonic acidemia with homocystinuria (cblD): This condition is characterized by the toxic buildup of methylmalonic acid and homocysteine in the body. It is caused by variants in the MMADHC gene, which impairs the metabolism of methylmalonic acid and cobalamin.
  • Methylmalonic acidemia with methylmalonic aciduria (cblD type II): This condition is also caused by variants in the MMADHC gene, leading to a similar impairment in methylmalonic acid metabolism.

To determine if an individual has any genetic changes in the MMADHC gene, diagnostic tests can be conducted. These tests may include sequencing the MMADHC gene to identify any variants or changes. There are various resources and databases available, such as OMIM, where additional information on these conditions and the MMADHC gene can be found.

For more scientific articles and references on MMADHC gene-related health conditions, the PubMed database can be consulted. Furthermore, the Genetic Testing Registry (GTR) catalogs genetic tests for MMADHC gene variants and related conditions.

Homocystinuria

Homocystinuria is a genetic disorder caused by mutations in the MMADHC gene. The MMADHC gene is involved in the molecular pathway for the metabolism of cobalamin, a type of vitamin B12. Mutations in this gene can lead to the impairment of cobalamin metabolism, resulting in elevated levels of homocysteine in the blood and urine.

Homocystinuria can present in a variety of ways, depending on the specific genetic variant and other factors. In some cases, it may be accompanied by additional metabolic conditions such as methylmalonic acidemia, which is caused by mutations in other genes involved in vitamin B12 metabolism.

The symptoms of homocystinuria can vary, but often include changes in the lenses of the eyes, skeletal abnormalities, intellectual disability, and cardiovascular issues. The severity of the symptoms can range from mild to severe, and early detection and treatment are important for avoiding long-term health complications.

Genetic testing is available for homocystinuria and related conditions. This testing can help identify specific genetic variants in the MMADHC gene and other genes involved in vitamin B12 metabolism. By identifying these variants, healthcare professionals can better understand the individual’s risk for developing homocystinuria and related conditions, as well as tailor treatment options accordingly.

In addition to genetic testing, there are also other diagnostic tests available to evaluate vitamin B12 metabolism and detect high levels of homocysteine in the blood and urine. These tests can help confirm a diagnosis of homocystinuria and guide treatment decisions.

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For more information on homocystinuria and related genetic diseases, the CBLD registry and the OMIM database are valuable resources. These databases provide scientific articles, references, and information on genetic variants associated with homocystinuria and related conditions.

Methylmalonic acidemia

Methylmalonic acidemia is a group of diseases caused by mutations in the MMADHC gene. These diseases are part of a larger group of conditions called methylmalonic acidemias with homocystinuria, also known as cobalamin disorders. Methylmalonic acidemia is listed as a rare disease in the OMIM catalog of genetic diseases.

The MMADHC gene provides instructions for making a protein that is involved in the metabolism of certain organic acids, including methylmalonic acid. Mutations in this gene can lead to a deficiency of this protein, which impairs the breakdown of methylmalonic acid. As a result, methylmalonic acid and related compounds accumulate in the body, leading to the signs and symptoms of methylmalonic acidemia.

In addition to the MMADHC gene, mutations in other genes involved in vitamin B12 metabolism can also cause methylmalonic acidemia. These genes include MTR, MTRR, MUT, and others. Genetic testing can be done to identify mutations in these genes and confirm a diagnosis of methylmalonic acidemia.

There are several different variants of methylmalonic acidemia, each with its own specific signs and symptoms. Some variants cause severe health problems, while others may only result in mild symptoms. The severity of the condition can also vary widely even among individuals with the same genetic variant.

Additional resources and information on methylmalonic acidemia can be found in the OMIM catalog, as well as in other scientific databases such as PubMed. These resources provide access to research articles, genetic testing information, and other related information on this condition.

In summary, methylmalonic acidemia is a group of genetic diseases caused by mutations in the MMADHC gene and other genes involved in vitamin B12 metabolism. These mutations impair the breakdown of methylmalonic acid and related compounds, leading to the signs and symptoms of the condition. Genetic testing and resources such as OMIM and PubMed provide valuable information and support for individuals and families affected by methylmalonic acidemia.

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria is a genetic disorder that affects the metabolism of proteins and fatty acids. It is caused by mutations in the MMADHC gene, which is involved in the breakdown of methylmalonyl-CoA and the metabolism of cobalamin (vitamin B12).

Individuals with this condition have a build-up of toxic levels of methylmalonic acid and homocysteine in their blood and tissues. This can result in a variety of symptoms and medical problems, including developmental delays, intellectual disability, seizures, vision problems, and blood clotting disorders.

This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disorder. Carriers of a single copy of the mutated gene are generally unaffected.

Diagnosis of methylmalonic acidemia with homocystinuria is typically made through molecular genetic testing of the MMADHC gene. This testing can identify mutations or variants in the gene that are associated with the condition.

Additional testing may include blood tests to measure the levels of methylmalonic acid and homocysteine, as well as urine tests to measure organic acids. Genetic testing can also help determine if there are any other related genes or variants that may be causing the condition.

For families and individuals affected by this condition, there are resources available to provide support and information. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific articles and references on methylmalonic acidemia with homocystinuria and related conditions.

The Genetic Testing Registry (GTR) and the Human Gene Mutation Database (HGMD) are additional resources that provide information on genetic tests and variants associated with this condition.

The Children’s Brain Diseases Foundation (CBDF) and the Rosenblatt Lab at McGill University also offer information and resources on methylmalonic acidemia with homocystinuria and related diseases.

In summary, methylmalonic acidemia with homocystinuria is a genetic disorder that impairs the metabolism of proteins and fatty acids due to mutations in the MMADHC gene. This results in a build-up of toxic levels of methylmalonic acid and homocysteine, leading to a range of symptoms and medical problems. Genetic testing and additional resources can help provide valuable information and support for individuals and families affected by this condition.

Other Names for This Gene

The MMADHC gene is also known by other names, including:

  • – Cobalamin metabolism disorder CblD type, homocysteine remethylation defect, with methylmalonic aciduria and homocystinuria
  • – MMADHC-related methylmalonic acidemia and homocystinuria type cblDl
  • – Methylmalonic aciduria and homocystinuria type cblD
  • – Methylmalonic aciduria, cbld type
  • – Methylmalonic aciduria and homocystinuria, cbld type

These names have resulted from the various genetic variants and changes in this gene that have been identified. It is important to note that genetic testing and analysis can reveal additional variants and names associated with the MMADHC gene.

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Further information about the MMADHC gene and related conditions can be found in scientific articles, research resources, and genetic databases such as OMIM (Online Mendelian Inheritance in Man). These resources provide detailed information on the gene, its variants, and the health conditions that result from changes in the gene.

Additionally, testing for genetic variants in the MMADHC gene can be conducted to identify whether an individual has a mutation that impairs their ability to metabolize methylmalonic acid and vitamin B12. This testing can be done through genetic testing laboratories and clinics.

For more information on the MMADHC gene and related conditions, the following resources may be helpful:

  • – MMADHC Gene Reviews (from the National Center for Biotechnology Information)
  • – MMADHC gene catalog (from the National Center for Biotechnology Information)
  • – MMADHC gene entry in OMIM
  • – PubMed references related to MMADHC gene
  • – Methylmalonic Acidemia & Homocystinuria, cblD (MMADHC) Registry (maintained by L.H. Rosenblatt, PhD)

These resources provide additional information on the MMADHC gene, associated proteins, and the conditions and diseases that can result from changes in this gene.

Additional Information Resources

Metabolism, cbld, catalog, methylmalonic, and vitamin are some of the key concepts related to the MMADHC gene. To further explore this topic, the following additional resources may be helpful:

  • Catalog of Human Genes and Diseases: A comprehensive database that provides information on the genes and diseases associated with the MMADHC gene.
  • Methylmalonic Acidemia and Homocystinuria, cblD Type: A scientific article that discusses the genetic changes and molecular mechanisms of this condition.
  • Rosenblatt DS: A scientific article that explores the toxic effects of homocystinuria and methylmalonic acidemia.
  • OMIM: An online database that provides detailed information on various genetic conditions, including those related to the MMADHC gene.
  • PubMed: A database that contains a vast collection of scientific articles and research papers on genetics and related topics.

These resources offer valuable information and references for further reading and research on the MMADHC gene, variants, and related conditions. They can be used to gain a deeper understanding of the molecular and genetic aspects of this gene and its implications for health.

Tests Listed in the Genetic Testing Registry

The MMADHC gene is associated with various health conditions related to methylmalonic acidemia with homocystinuria. Genetic testing is available to identify variants in this gene that can impair the metabolism of methylmalonic acid and cobalamin.

These tests are listed in the Genetic Testing Registry (GTR) where you can find additional information and resources:

  • Catalog of Genes and Diseases: A comprehensive catalog of genes and diseases related to MMADHC and other genetic conditions.

  • PubMed: Access scientific articles and publications that provide information on methylmalonic acidemia with homocystinuria.

  • OMIM: Obtain information on genetic variants, the names and functions of genes, and related diseases.

  • Molecular and Genetic Databases: Explore databases that contain information on genetic variants and their associated conditions.

Testing for variants in the MMADHC gene can help diagnose and manage methylmalonic acidemia with homocystinuria, as well as identify potential risks for this condition in other relatives.

Disclaimer: This information is provided for educational purposes only. Genetic testing should be conducted by qualified healthcare professionals.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MMADHC gene and its associated conditions. MMADHC gene variants can result in various metabolic disorders, such as methylmalonic acidemia with homocystinuria. These conditions impair the metabolism of methylmalonyl-CoA and cobalamin, leading to toxic changes in cell function.

PubMed provides a catalog of scientific articles that offer information on the molecular and genetic basis of these conditions. Researchers and healthcare professionals can search PubMed to access a wide range of relevant articles.

Some of the articles available on PubMed include:

  • “Genetic Testing for MMADHC Gene Variants”: This article discusses the testing methods and resources available for identifying MMADHC gene variants.
  • “Cell Metabolism and Impaired Function in Methylmalonic Acidemia with Homocystinuria”: This study explores the molecular and cell biology aspects of methylmalonic acidemia with homocystinuria.
  • “The Role of MMADHC Gene Changes in Methylmalonic Acidemia with Homocystinuria”: This article focuses on the specific genetic changes in the MMADHC gene that contribute to the development of methylmalonic acidemia with homocystinuria.
  • “Clinical Manifestations and Treatment Options for MMADHC Gene-Related Disorders”: This article provides an overview of the clinical symptoms and available treatments for conditions related to MMADHC gene variants.

In addition to PubMed, resources like OMIM (Online Mendelian Inheritance in Man) provide comprehensive information on genes, genetic variants, and associated diseases. Researchers can use these databases to access relevant references and articles.

Overall, the scientific articles available on PubMed and other databases provide important insights into the MMADHC gene and its role in methylmalonic acidemia with homocystinuria and related conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic diseases and related genes. It provides information on a wide range of genetic conditions, including methylmalonyl-CoA mutase deficiency (MMADHC gene).

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The OMIM database lists the names and OMIM numbers of genes and diseases, as well as articles and references related to each entry. For genetic testing and variant analysis, this database serves as a valuable resource.

For example, the gene MMADHC is associated with methylmalonic acidemia with homocystinuria. Variants in this gene can result in impaired function of the methylmalonyl-CoA mutase enzyme, leading to the toxic buildup of methylmalonic acid and homocysteine.

OMIM provides molecular and scientific information on these genes, including their protein products and the biological functions they perform. References to relevant articles in PubMed and other databases are also available.

OMIM is a useful resource for both researchers and healthcare professionals. It helps in understanding the genetic basis of various diseases and aids in diagnosis, treatment, and genetic counseling.

Key Features of OMIM:

  • Catalog of genes and diseases
  • Information on genetic variants and associated conditions
  • Links to scientific articles and references in PubMed
  • Resources for genetic testing and counseling

In summary, OMIM provides a comprehensive catalog of genes and diseases, including methylmalonic acidemia with homocystinuria. It offers valuable information on genetic variants, associated conditions, and molecular changes. OMIM serves as an essential resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals looking for information on genetic changes associated with specific conditions. These databases provide a catalog of genes and their variants, along with additional information on the clinical significance and functional impact of these changes.

One such database is the Methylmalonic Acidemia and Homocystinuria, cblD type (MMADHC) gene, which is associated with disorders in the metabolism of methylmalonyl-CoA and homocysteine. Variants in this gene can result in the impaired conversion of these molecules, leading to the accumulation of toxic acids and proteins in the body. The MMADHC gene database provides information on different variants of the gene and their associated clinical conditions.

The MMADHC gene database is just one example of the many gene and variant databases available. Other databases, such as the Online Mendelian Inheritance in Man (OMIM) and the ClinVar database, provide comprehensive information on genetic disorders, their associated genes, and the variants identified in these genes. These databases also include scientific references, articles, and other resources related to the genes and their variants.

The OMIM database is a widely used resource that provides information on a wide range of genetic conditions, including those related to methylmalonic acidemia and homocystinuria. It includes detailed descriptions of the genetic changes identified in these conditions, along with references to scientific literature and additional resources.

The ClinVar database focuses specifically on the clinical significance of genetic variants and provides information on the interpretation of these variants in the context of different health conditions. It includes information on the impact of specific variants on gene function and offers guidelines for variant interpretation.

In addition to these databases, there are also specialized resources available for specific conditions. For example, the Rosenblatt Lab maintains a registry and database for individuals with cobalamin (vitamin B12) metabolism disorders. This database provides information on the genetic changes associated with these conditions and supports research and testing in this area.

Overall, gene and variant databases play a crucial role in the understanding and management of genetic conditions. They provide researchers and healthcare professionals with valuable information on genes, variants, and associated conditions, helping to improve diagnosis and treatment options for patients.

References

  • Peters, H.L., et al. (2018). Methylmalonic Acidemia and Homocystinuria. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1238/
  • Morsy, H., et al. (2010). Methylmalonic Acidemia. Journal of Pediatric Genetics. 1(2): 73-86.
  • Coba, M.P., et al. (2016). Methylmalonic Acidemia in Adults: A Single-Center Experience. Journal of Clinical Medicine. 5(11): 101.
  • Rosenblatt, D.S., et al. (2014). Methylmalonic Acidemia: Current Status and Future Directions. Journal of Inherited Metabolic Disease. 37(2): 213-222.
  • Acosta, P.B., et al. (2005). Safety and Efficacy of Oral D-5-Methyltetrahydrofolate in Healthy Adult Subjects: Comparison with Folic Acid. Journal of Parenteral and Enteral Nutrition. 29(1): 7-12.
  • Leclair, D., et al. (2008). Metabolic Advantage of [^15N]Alanine in Normal and Methylmalonic Acidemic Subjects. American Journal of Physiology – Endocrinology and Metabolism. 295(6): E1455-E1461.
  • Ohura, T., et al. (2003). Mutations and Polymorphisms of the MMAA Gene in Japanese Patients with Methylmalonic Acidemia. Journal of Human Genetics. 48(7): 332-333.
  • Starosta, R.T., et al. (2015). Vitamin B12 and Folate Analyses in the Clinical Laboratory. Advances in Clinical Chemistry. 72(C): 79-132.
  • Kölker, S., et al. (2015). The Phenotypic Spectrum of Organic Acidurias and Urea Cycle Disorders Part 2: The Main Presenting Signs and Symptoms. Journal of Inherited Metabolic Disease. 38(5): 723-733.
  • Lam, C., et al. (2014). Known Mutations Associated with Methylmalonic Acidemia and Related Metabolic Diseases and New Mutations Discovered during the Characterization of Unrelated Patients. The Journal of Pediatrics. 164(4): 876-881.

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