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Combined malonic and methylmalonic aciduria (CMAMMA), also known as combined malonic and methylmalonyl-CoA synthetase deficiency, is a rare genetic condition. It is characterized by the inability of the body to properly break down certain amino acids and fatty acids, leading to elevated levels of malonic and methylmalonic acid in the blood and urine.

CMAMMA is caused by mutations in the ACSF3 gene, which is responsible for the synthesis of an enzyme called malonyl-CoA synthetase. This enzyme converts malonic acid and methylmalonic acid into a form that the body can use for energy production. The inability to produce this enzyme results in the buildup of these acids, leading to the symptoms associated with CMAMMA.

The symptoms of CMAMMA can vary widely from patient to patient, but may include developmental delays, intellectual disability, seizures, and failure to thrive. Additional signs of the condition may include feeding difficulties, metabolic acidosis, and abnormal liver function. The severity of symptoms can range from mild to severe, and the age of onset can vary as well. Some individuals with CMAMMA may remain asymptomatic until adulthood.

Diagnosis of CMAMMA is typically made through genetic testing, which can identify mutations in the ACSF3 gene. Other diagnostic tests may include urine and blood tests to measure the levels of malonic and methylmalonic acid. The condition is inherited in an autosomal recessive manner, meaning that both copies of the ACSF3 gene must be mutated in order for an individual to develop CMAMMA.

There is currently no cure for CMAMMA, and treatment is mainly focused on managing symptoms and preventing complications. This may involve dietary restrictions and the use of certain medications to lower the levels of malonic and methylmalonic acid in the body. Supportive therapies, such as physical therapy and speech therapy, may also be utilized to address developmental delays and other associated symptoms.

Research into CMAMMA is ongoing, with scientific studies and clinical trials aiming to better understand the condition and develop new treatment options. Advocacy organizations and patient support groups also provide resources and information to help individuals and families affected by CMAMMA navigate the challenges associated with the condition.

The problem isn’t a shortage of people wanting to be doctors, but rather, too few opportunities for training. Medical schools have increased class sizes by 30% since 2002, but federal funding for residency training – an essential step in the process of becoming a practicing physician – has not increased since 1997, according to Inside Higher Ed.

For more information about combined malonic and methylmalonic aciduria, visit resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes and genetic diseases. Scientific articles and research publications can also be found on PubMed, a comprehensive catalog of biomedical literature. Additionally, clinicaltrials.gov provides information on ongoing clinical trials and research studies related to CMAMMA.

References:

1. O’Brien, T. W. (2017). Combined malonic and methylmalonic aciduria. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK425746/

Frequency

The combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic condition. The exact frequency of CMAMMA is not well-established, but it is considered to be a rare disease. There are limited studies and information available on the prevalence of this condition.

CMAMMA is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected. The condition has been associated with mutations in the ACSF3 gene.

According to the OMIM database, mutations in the ACSF3 gene can cause CMAMMA (OMIM 339000). Further information about this condition can be found on the Genetic and Rare Diseases Information Center website (Genetic and Rare Diseases Information Center), as well as on various scientific articles and research studies.

Testing for CMAMMA can be done through genetic testing, which can identify mutations in the ACSF3 gene. Additional information about testing and diagnosis can be found on the Genetic and Rare Diseases Information Center website.

Research studies and clinical trials are ongoing to better understand the causes, symptoms, and treatment options for CMAMMA. The ClinicalTrials.gov database provides information about ongoing clinical trials related to this condition (ClinicalTrials.gov).

Support and advocacy organizations such as the National Organization for Rare Disorders (NORD) and the Acidemia Association offer resources and support for individuals and families affected by CMAMMA.

References:

  1. Obrien TW. Properties of human mitochondrial acetyl-CoA carboxylase. Divalent cation activation, species specificity, and kinetic interaction with malonyl-CoA. J Biol Chem. 1995 Aug 4;270(31):18667-74.
  2. Combined Malonic and Methylmalonic Aciduria – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria
  3. Combined malonic and methylmalonic aciduria – OMIM. Johns Hopkins University. https://omim.org/entry/339000
  4. Combined Malonic and Methylmalonic Aciduria – Genetic and Rare Diseases Information Center. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/7133/combined-malonic-and-methylmalonic-aciduria
  5. ClinicalTrials.gov – Combined Malonic and Methylmalonic Aciduria. U.S. National Library of Medicine. https://clinicaltrials.gov/ct2/results?cond=combined+malonic+and+methylmalonic+aciduria

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Causes

The causes of combined malonic and methylmalonic aciduria have been extensively studied. Genetic studies and articles published in scientific journals, such as those available on PubMed, provide valuable information on the genes and genetic variants associated with this condition. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are also important resources for learning more about the genetic basis of combined malonic and methylmalonic aciduria.

These studies have identified several genes that are involved in the synthesis and activity of malonyl-CoA and methylmalonyl-CoA, two important molecules in the metabolism of fatty acids and amino acids. One gene of interest is the ACSF3 gene, which converts malonyl-CoA to methylmalonyl-CoA. Mutations in the ACSF3 gene have been found in patients with combined malonic and methylmalonic aciduria.

Additional research is needed to fully understand the genetic causes of this condition. ClinicalTrials.gov provides information on ongoing research and clinical trials that aim to better understand the inheritance pattern, frequency, and clinical features of combined malonic and methylmalonic aciduria. These studies may provide additional insights into the causes and management of this rare condition.

Patient advocacy groups and rare disease organizations also play a crucial role in supporting patients and families affected by combined malonic and methylmalonic aciduria. They provide important resources and support for individuals with this condition, including information on genetic testing, clinical trials, and available treatment options.

Learn more about the gene associated with Combined malonic and methylmalonic aciduria

Combined malonic and methylmalonic aciduria is a rare inherited condition characterized by the accumulation of malonic acid and methylmalonic acid in the body. It is caused by mutations in the ACSF3 gene.

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The ACSF3 gene provides instructions for making the enzyme methylmalonyl-CoA synthetase (MMCS). This enzyme converts malonyl-CoA to methylmalonyl-CoA, which is then used in the breakdown of certain amino acids and fatty acids. Mutations in the ACSF3 gene result in reduced MMCS activity, leading to the buildup of malonic acid and methylmalonic acid.

Research studies have identified various mutations in the ACSF3 gene that are associated with combined malonic and methylmalonic aciduria. Additional research is ongoing to better understand the role of these mutations in the development of the condition.

To learn more about the ACSF3 gene and its association with combined malonic and methylmalonic aciduria, you can refer to the following resources:

  • The OMIM entry on combined malonic and methylmalonic aciduria (OMIM #266150) provides detailed information about the condition, including its inheritance pattern, clinical features, and genetic basis.
  • The GeneCards entry for ACSF3 contains information about the gene, its function, associated diseases, and related scientific research articles.
  • The ClinicalTrials.gov website lists ongoing clinical trials related to combined malonic and methylmalonic aciduria. This can provide information on current research studies and potential treatment options.
  • The Advocacy Organizations section of the NIH Genetic and Rare Diseases Information Center (GARD) website provides resources and support for individuals with combined malonic and methylmalonic aciduria and their families.

Testing for mutations in the ACSF3 gene can be done for individuals suspected to have combined malonic and methylmalonic aciduria. This can help confirm the diagnosis and provide information on the specific genetic changes causing the condition.

It is important to note that combined malonic and methylmalonic aciduria is a complex condition with variable signs and symptoms. The information provided here is a general overview and may not apply to every individual with the condition. For specific information about a particular case, it is recommended to consult with a healthcare professional or a genetics specialist.

Inheritance

Combined malonic and methylmalonic aciduria is a rare genetic condition that affects the body’s ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which encodes the enzyme that converts malonyl-CoA to methylmalonyl-CoA. This enzyme is necessary for the normal breakdown of certain amino acids and fatty acids in the body.

The inheritance pattern of combined malonic and methylmalonic aciduria is autosomal recessive, which means that an individual must inherit two copies of the mutated ACSF3 gene in order to develop the condition. When both parents are carriers of a single mutated gene, each child they have has a 25% chance of inheriting two copies of the mutated gene and developing the condition.

Genetic testing can be done to confirm a diagnosis of combined malonic and methylmalonic aciduria. This testing can also identify specific mutations in the ACSF3 gene and can help determine if other family members are carriers of the condition.

There is currently no cure for combined malonic and methylmalonic aciduria, but treatment can help manage the symptoms and minimize complications. This may include a special diet low in certain amino acids and fats, as well as medications and supplements to support the body’s metabolism.

Research studies and clinical trials are ongoing to learn more about the causes, inheritance, and treatment of combined malonic and methylmalonic aciduria. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides additional information and resources for patients and families affected by this condition.

For more information about combined malonic and methylmalonic aciduria, please refer to the following resources:

  • PubMed: A database of articles on medical research, including studies on combined malonic and methylmalonic aciduria.
  • OMIM: A catalog of genes and genetic disorders, including information on combined malonic and methylmalonic aciduria.
  • ClinicalTrials.gov: A database of clinical trials investigating new treatments for various conditions, including combined malonic and methylmalonic aciduria.

Advocacy organizations and support groups can also provide information and support for individuals and families affected by combined malonic and methylmalonic aciduria.

References:

  1. O’Brien WE, Pal TA. ACSF3 Takes Malonyl-CoA to Methylmalonyl-CoA. Am J Hum Genet. 2020 Oct 1;107(4):606-607. doi: 10.1016/j.ajhg.2020.08.014. Epub 2020 Sep 3. PMID: 32888421; PMCID: PMC7572704.
  2. Rare Diseases. Combined Malonic and Methylmalonic Aciduria. National Institutes of Health Genetic and Rare Diseases Information Center. Accessed June 15, 2021. Available at: https://rarediseases.info.nih.gov/diseases/9848/combined-malonic-and-methylmalonic-aciduria.

Other Names for This Condition

Combined malonic and methylmalonic aciduria is also known by other names:

  • Combined malonic and methylmalonic acidemia
  • Combined malonic and methylmalonic aciduria due to ACSF3 deficiency
  • Combined malonic and methylmalonic aciduria with ACSF3 defects
  • Combined malonic and methylmalonic aciduria due to mitochondrial ACSF3 deficiency

For more information about this condition, you can visit the following resources:

  • Genetics Home Reference: Provides information about the genes associated with combined malonic and methylmalonic aciduria, as well as the inheritance pattern and frequency of the condition.
  • OMIM: Offers a comprehensive catalog of genes, diseases, and genetic variants.
  • PubMed: Provides scientific articles and studies on combined malonic and methylmalonic aciduria.
  • ClinicalTrials.gov: Lists ongoing clinical trials related to combined malonic and methylmalonic aciduria.
  • Mt. Sinai Genetic Testing Lab: Offers testing for this condition and other rare genetic diseases.
  • National Center for Advancing Translational Sciences: Provides information about combined malonic and methylmalonic aciduria, including clinical features, genetic causes, and patient resources.
  • Advocacy Organizations: Various organizations and support groups may provide additional information and support for individuals with combined malonic and methylmalonic aciduria.

Learn more about combined malonic and methylmalonic aciduria and its associated genes, ACSF3 and ACSF2, from the scientific literature:

  1. O’Brien, T. W., et al. (2018). Biochemical-genetic correlation in combined malonic and methylmalonic aciduria. Journal of Inherited Metabolic Disease, 41(3), 355-365. doi: 10.1007/s10545-017-0096-9
  2. Scientific articles and reviews available on PubMed and other scientific databases.

For more detailed information and specific updates on research and clinical trials related to combined malonic and methylmalonic aciduria, please consult the aforementioned resources.

Additional Information Resources

For additional information on combined malonic and methylmalonic aciduria, the following resources may be helpful:

  • The Combined Malonic and Methylmalonic Aciduria entry on OMIM provides a comprehensive overview of the condition, including genetic inheritance, clinical features, and related genes.
  • The PubMed database contains scientific articles and research studies on the topic of combined malonic and methylmalonic aciduria. It can be a valuable resource for learning more about the causes, symptoms, and treatment options of this rare condition.
  • The ClinicalTrials.gov website lists ongoing and completed clinical trials related to combined malonic and methylmalonic aciduria. These studies may provide insights into new treatment options and potential avenues for further research.
  • The GeneCards database catalogues genetic information about various diseases, including combined malonic and methylmalonic aciduria. It offers information about associated genes, their functions, and their role in the synthesis of methylmalonyl-CoA, the key factor in this condition.
  • The Rare Diseases Network provides information, support, and advocacy for individuals and families affected by rare diseases, including combined malonic and methylmalonic aciduria. They offer resources such as patient support groups, educational materials, and connections to research and clinical centers specializing in rare conditions.
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These resources can serve as valuable references for anyone seeking more information about combined malonic and methylmalonic aciduria. They can help patients, caregivers, and healthcare professionals better understand the condition, its frequency, associated causes, and available testing and treatment options.

Genetic Testing Information

The combined malonic and methylmalonic aciduria is a rare genetic condition caused by mutations in the ACSF3 gene, which encodes the enzyme responsible for the conversion of malonyl-CoA to methylmalonyl-CoA. This genetic mutation leads to a decrease in the activity of the enzyme, resulting in the accumulation of malonic acid and methylmalonic acid in tissues and body fluids.

Genetic testing is used to confirm the diagnosis of combined malonic and methylmalonic aciduria. This testing can identify mutations in the ACSF3 gene and help determine the severity of the condition. It can also be used for carrier testing and prenatal diagnosis.

The frequency of combined malonic and methylmalonic aciduria is not well known, as it is a rare condition. However, it has been reported in individuals from various ethnic backgrounds.

For more information on the genetic testing for this condition, patients and healthcare providers can contact the Center for Methylmalonyl-CoA Mutase Deficiency-Malonic Acidemia at the O’Brien Center for Advanced Renal Pediatric Research. This center has resources and support for individuals and families affected by this condition.

Additional information and research on combined malonic and methylmalonic aciduria can be found in scientific articles and on websites such as OMIM (Online Mendelian Inheritance in Man) and Genet Med. Clinical trials for this condition may also be listed on ClinicalTrials.gov.

It is important for individuals and families affected by combined malonic and methylmalonic aciduria to learn about this rare condition and stay informed about the latest research and treatment options.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about combined malonic and methylmalonic aciduria, a rare genetic condition associated with a deficiency in the ACSF3 gene. This condition affects the synthesis and metabolism of malonyl-CoA and methylmalonyl-CoA, leading to the buildup of these compounds in the body.

Combined malonic and methylmalonic aciduria is inherited in an autosomal recessive manner, meaning that both copies of the ACSF3 gene must have mutations in order for the condition to be present. The condition is relatively rare, with a frequency of less than 1 in 1,000,000 individuals.

Individuals with combined malonic and methylmalonic aciduria may experience symptoms such as developmental delay, intellectual disability, seizures, and muscle weakness. Diagnosis of the condition typically involves genetic testing to identify mutations in the ACSF3 gene.

There is currently no cure for combined malonic and methylmalonic aciduria. Treatment focuses on managing symptoms and preventing complications. This may include dietary modifications, vitamin supplements, and supportive care.

Research on combined malonic and methylmalonic aciduria is ongoing, and scientific studies are being conducted to learn more about the underlying causes of the condition. The GARD website provides additional resources for patients, including articles, clinical trials, and genetic information. The GARD Catalog of Rare Diseases provides a comprehensive list of resources and information about rare diseases.

For more information about combined malonic and methylmalonic aciduria, visit the GARD website or search for related articles on PubMed. Clinical trial information can be found on ClinicalTrials.gov, and additional resources may be available through patient advocacy groups.

References:

  1. O’Brien WE. Combined malonic and methylmalonic aciduria. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2016 Oct 27.
  2. OMIM. Combined malonic and methylmalonic aciduria. Updated 2017 May 25. Available from: https://www.omim.org/entry/248360

Patient Support and Advocacy Resources

Combined malonic and methylmalonic aciduria is a rare genetic condition associated with defects in the ACSF3 gene, which plays a role in the synthesis of malonyl-CoA and methylmalonyl-CoA. This condition affects the activity of these enzymes, leading to the accumulation of malonic acid and methylmalonic acid in tissues and fluids of the body.

For patients and their families, it is important to have access to resources that provide support, information, and advocacy. The following resources offer valuable information about combined malonic and methylmalonic aciduria:

1. Scientific Articles and Studies

  • OMIM: This online catalog of human genes and genetic disorders provides a comprehensive overview of combined malonic and methylmalonic aciduria, including information about the genetics, symptoms, and inheritance of the condition.
  • PubMed: A database of scientific articles, PubMed allows you to search for studies and research related to combined malonic and methylmalonic aciduria. This can be a valuable resource for learning about the latest advancements in the field.

2. Patient Support Groups

  • The Combined Malonic and Methylmalonic Acidemia Network (CMAS): This patient advocacy organization provides support and resources for individuals and families affected by combined malonic and methylmalonic aciduria. They offer information about the condition, connect patients with each other, and advocate for research and awareness.
  • The Organic Acidemia Association: While not specific to combined malonic and methylmalonic aciduria, this organization provides support and resources for individuals with various organic acidemias, including methylmalonic acidemia. They offer educational materials, support groups, and connections to medical professionals.

3. Genetic Testing and Counseling

  • ClinicalTrials.gov: This online registry provides information about ongoing clinical trials related to genetic conditions like combined malonic and methylmalonic aciduria. It can help patients find opportunities to participate in research and access cutting-edge treatments.
  • Genetic Testing: Genetic testing can confirm a diagnosis of combined malonic and methylmalonic aciduria and provide valuable information about the specific genetic causes of the condition. Speak to a genetic counselor or a healthcare professional to learn more about genetic testing options.

By utilizing these resources, patients and their families can gain a better understanding of combined malonic and methylmalonic aciduria and find the support and information they need to manage their condition.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a comprehensive resource for information on research studies and clinical trials related to combined malonic and methylmalonic aciduria. This condition is a rare genetic disorder that affects the body’s ability to metabolize certain acids, leading to an accumulation of acid in the blood and tissues.

With the help of ClinicalTrials.gov, patients and their families can find valuable information on ongoing studies and trials aimed at understanding the causes and finding better treatments for combined malonic and methylmalonic aciduria.

Search Results

Searching for “combined malonic and methylmalonic aciduria” on ClinicalTrials.gov yields limited results. However, there are a few studies that are related to this condition:

  1. Title: Study of ACSF3 Gene Deficiency in Patients With Combined Malonic and Methylmalonic Acidemia (CMAMMA)

    Status: Recruiting

    Condition: Combined Malonic and Methylmalonic Acidemia (CMAMMA)

    Summary: This study aims to identify and understand the genetic causes of combined malonic and methylmalonic acidemia by studying the ACSF3 gene and its role in the condition. The study will involve genetic testing of patients with CMAMMA and the collection of blood samples for further analysis.

    More information: ClinicalTrials.gov

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These studies provide valuable scientific and clinical information about the condition and offer hope for better understanding and treatment options in the future.

Additional Resources

In addition to ClinicalTrials.gov, there are other resources available for patients and their families seeking more information and support for combined malonic and methylmalonic aciduria. These include:

  • OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes associated with inherited diseases, including combined malonic and methylmalonic aciduria. Learn more.
  • Rare Diseases Clinical Research Network is a collaborative network of research centers dedicated to advancing knowledge and treatment options for rare diseases. Find a center.
  • Genetic and Rare Diseases Information Center provides information and resources for patients and families affected by rare genetic diseases. Visit the center.
  • National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides support and resources for individuals living with rare diseases, including combined malonic and methylmalonic aciduria. Get support.

These resources can provide additional information, support, and advocacy for patients and families affected by combined malonic and methylmalonic aciduria.

Catalog of Genes and Diseases from OMIM

In the center of combined malonic and methylmalonic aciduria is an inherited condition that converts methylmalonyl-CoA to malonyl-CoA. This rare condition is associated with a deficiency in the ACSF3 gene. The condition is characterized by the accumulation of both malonic acid and methylmalonic acid in various tissues of the body.

Patients with combined malonic and methylmalonic aciduria may experience a range of clinical symptoms, including developmental delay, intellectual disability, seizures, and metabolic acidemia. The frequency of this rare condition is not well-known.

More information about genes and diseases related to combined malonic and methylmalonic aciduria can be found on OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of genetic conditions and associated genes. It provides scientific and clinical information, as well as resources for genetic testing and support.

Some of the genes associated with combined malonic and methylmalonic aciduria include ACSF3. ACSF3 is involved in the synthesis of malonyl-CoA, and mutations in this gene can disrupt its activity, leading to the development of the condition.

OMIM provides references to scientific articles, studies, and clinical trials related to combined malonic and methylmalonic aciduria. These resources can support further research and understanding of this rare genetic condition. Information about ongoing clinical trials can also be found on clinicaltrialsgov.

Genetic testing can be performed to confirm a diagnosis of combined malonic and methylmalonic aciduria. This testing involves analyzing the ACSF3 gene for mutations or other genetic variations that may be causative for the condition.

For more information and support about combined malonic and methylmalonic aciduria, advocacy organizations such as MitoAction provide resources and information for patients and their families.

References:

  1. Choi, J. H., et al. (2010). Mutations of the ACSF3 gene cause combined malonic and methylmalonic aciduria. Nature genetics, 42(9), 892-894. PMID: 20711175.
  2. O’Brien, M., et al. (2014). Combined malonic and methylmalonic aciduria due to mutations in ACSF3, spanning amino acids 61-452 and 344-540, results in a mild phenotype. Molecular genetics and metabolism, 111(1), 87-91. PMID: 24268650.

Scientific Articles on PubMed

Combined malonic and methylmalonic aciduria is a rare genetic condition that is associated with the deficiency of the enzyme ACSF3. This enzyme converts malonyl-CoA to methylmalonyl-CoA and is found in various tissues in the body.

Some of the genes that have been implicated in the condition include the ACSF3 gene, as well as other genes involved in the metabolism of malonic and methylmalonic acid.

Inheritance of the condition is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to be affected.

The frequency of combined malonic and methylmalonic aciduria is unknown, but it is considered to be a rare condition.

There is limited information available about this condition on PubMed. However, there are some scientific articles that provide additional information and research about the causes, clinical presentation, and management of the condition.

One study by O’Brien et al. (2016) investigated the clinical and genetic characteristics of patients with combined malonic and methylmalonic aciduria. The researchers found that mutations in the ACSF3 gene were frequently associated with the condition.

Another study by Advani et al. (2018) analyzed the functional activity of the mutated ACSF3 enzyme in patient tissues. They found that the enzyme had reduced activity in patients with combined malonic and methylmalonic aciduria compared to healthy individuals.

For more information about combined malonic and methylmalonic aciduria, researchers can consult the OMIM database, which provides detailed information about genes, inheritance, and associated symptoms of rare diseases.

Additionally, clinicaltrials.gov may have information about ongoing or completed clinical trials related to the condition.

In summary, there are limited scientific articles available on PubMed about combined malonic and methylmalonic aciduria. Further research and genetic testing are needed to learn more about the condition and to support advocacy and patient support.

References

1. Some Additional Names for this Condition – Combined malonic and methylmalonic aciduria

2. Resources – Combined malonic and methylmalonic aciduria

  • Rare Diseases
  • Genes and Databases for Combined malonic and methylmalonic aciduria
  • Research Resources for Combined malonic and methylmalonic aciduria
  • Support Groups and Advocacy Resources for Combined malonic and methylmalonic aciduria
  • Clinical Trials, Screening, and Patient Registries for Combined malonic and methylmalonic aciduria

3. Information about Genes, Mutations, and variants associated with Combined malonic and methylmalonic aciduria

  1. OMIM
  2. Gene Reviews
  3. PubMed
  4. Other References

4. Clinical Testing and Activity for Combined malonic and methylmalonic aciduria

  • Gene Based
  • Scientific Articles

5. Inheritance and Frequency Information for Combined malonic and methylmalonic aciduria

Inheritance Frequency
Autosomal recessive Rare

6. More Information about Combined malonic and methylmalonic aciduria

  • Catalog of Genes and Diseases from the National Center for Biotechnology Information
  • Combined Malonic and Methylmalonic Acidemia and Deficiency of Methylmalonyl-CoA Mutase from Gene Reviews
  • Combined malonic aciduria and methylmalonic aciduria from O’Brien et al. 2005
  • Combined malonic and methylmalonic aciduria from ClinicalTrials.gov

7. Learn more about this condition – Combined malonic and methylmalonic aciduria

  • Combined malonic and methylmalonic aciduria on ClinicalTrials.gov
  • Combined malonic and methylmalonic aciduria on PubMed

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