Propionic acidemia

Propionic acidemia is a rare genetic condition that causes a deficiency in the enzyme propionyl-CoA carboxylase. This enzyme is responsible for breaking down certain amino acids and fats in the body. Without enough of this enzyme, propionic acid and other toxic substances build up in the blood and can cause a range of symptoms and health problems.

Propionic acidemia is inherited in an autosomal recessive manner, meaning that both parents must carry a nonworking copy of the gene that causes the condition in order for their child to be affected. The frequency of propionic acidemia varies among different populations, but it is estimated to occur in approximately 1 in 100,000 to 1 in 150,000 live births.

Common symptoms of propionic acidemia include poor feeding, vomiting, low muscle tone, developmental delay, and seizures. If left untreated, the condition can lead to more severe complications, such as organ damage and metabolic crisis.

Diagnosis of propionic acidemia is typically made through blood and urine tests that measure the levels of propionic acid and other substances. Genetic testing can also be used to identify mutations in the PROP gene, which is responsible for coding the propionyl-CoA carboxylase enzyme.

Treatment for propionic acidemia includes a restrictive diet that limits the intake of certain amino acids and fats. This can help to reduce the buildup of propionic acid and decrease the risk of complications. In some cases, additional therapies may be necessary to manage specific symptoms or complications.

Research studies and clinical trials are ongoing to learn more about propionic acidemia and develop improved treatments. Several organizations and resources provide support and information for patients and their families, including advocacy groups, research centers, and online databases like OMIM, PubMed, and Orphanet.

Frequency

The frequency of propionic acidemia is estimated to be approximately 1 in 100,000 to 1 in 150,000 births worldwide. It is considered a rare condition.

Propionic acidemia is a genetic disorder that is caused by a deficiency of the enzyme propionyl-CoA carboxylase. This enzyme is involved in the metabolism of certain amino acids and fatty acids. Without this enzyme, propionic acid and other toxic metabolites can build up in the body, leading to a range of symptoms and complications.

Propionic acidemia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene to develop the condition. The genes associated with propionic acidemia are PCCA and PCCB.

There are several names for propionic acidemia, including propionic aciduria, propionyl-CoA carboxylase deficiency, and ketotic glycinemia.

The frequency of propionic acidemia varies among different populations and regions. In some populations, such as the Old Order Amish, the frequency is higher due to the presence of a founder mutation.

Additional information about the frequency and inheritance of propionic acidemia can be found in scientific articles, genetic databases, and resources such as OMIM (Online Mendelian Inheritance in Man), Orphanet, and PubMed.

Patient advocacy groups and support organizations can also provide more information about propionic acidemia, including resources for patients and families, research studies, and clinical trials. The National Center on Birth Defects and Developmental Disabilities (NCBDDD) and the Office of Rare Diseases Research (ORDR) are two organizations that provide support and information on rare diseases, including propionic acidemia.

Learn more about propionic acidemia and other rare genetic disorders by visiting the following websites:

References:

  1. Fowler B, Leonard JV, Baumgartner MR. Propionic acidemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  2. National Center on Birth Defects and Developmental Disabilities (NCBDDD). Propionic Acidemia. Centers for Disease Control and Prevention. [Online]. Available from: https://www.cdc.gov/ncbddd/spanish/birthdefects/propionicacidemia.html
  3. Office of Rare Diseases Research (ORDR). Propionic Acidemia. National Institutes of Health. [Online]. Available from: https://rarediseases.info.nih.gov/diseases/64/propionic-acidemia
  4. Roe CR, Sweetman L, Roe DS, et al. Propionic acidemia: clinical features and diagnosis. Clin Chem. 2006;52(2):343-53.

Causes

Propionic acidemia (PA) is a rare genetic disorder caused by a deficiency in the enzyme propionyl-CoA carboxylase (PCC). PCC is responsible for breaking down propionic acid, a substance created during the digestion of certain proteins and fats. Without PCC, propionic acid builds up in the body and can become toxic.

PA is inherited in an autosomal recessive manner, meaning an affected individual must inherit a mutation in both copies of the PCCA or PCCB gene, which encode the subunits of PCC. The frequency of PA is estimated to be approximately 1 in 35,000 births.

PA can have a wide range of clinical presentations and severity. Some patients may have mild symptoms that are detected later in life, while others may have severe symptoms from infancy. The clinical features can include developmental delays, intellectual disability, lethargy, poor feeding, vomiting, seizures, and metabolic acidosis.

It is important to note that propionic acidemia is just one of several types of organic acidemias, which are a group of rare inherited disorders characterized by the accumulation of toxic substances in the body. These conditions can be caused by deficiencies in other enzymes involved in the processing of organic acids.

Additional information about propionic acidemia, including patient support resources, scientific research articles, and other related diseases, can be found on the Online Mendelian Inheritance in Man (OMIM) catalog and the Orphanet website. ClinicalTrials.gov and PubMed also provide access to clinical trials and additional research studies related to propionic acidemia.

Research on the causes of propionic acidemia, as well as advocacy and support for patients and families affected by the condition, is ongoing. Genetic research aims to identify new genes and mutations associated with propionic acidemia, which may lead to improved diagnostic methods and potential treatments in the future.

Learn more about the genes associated with Propionic acidemia

Propionic acidemia is a rare genetic condition that causes a deficiency in the propionyl-CoA carboxylase enzyme. This enzyme is responsible for breaking down certain amino acids and fats in the body. Without it, toxic substances can build up and cause damage to the organs and tissues.

There are several genes associated with propionic acidemia, including:

  • PCCA: This gene provides instructions for making one of the subunits of propionyl-CoA carboxylase.
  • PCCB: This gene provides instructions for making the other subunit of propionyl-CoA carboxylase.

These genes are inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Additional genetic information about propionic acidemia can be found on the Orphanet and OMIM websites. These resources provide comprehensive information about the genes involved, inheritance patterns, and other related genetic conditions.

For patients and families affected by propionic acidemia, there are advocacy groups and patient support organizations that provide resources and information. These organizations can help connect individuals with others who are going through similar experiences and provide educational materials and support.

See Also:  HARS2 gene

Scientific research on propionic acidemia and associated genes is ongoing. Studies are being conducted to better understand the causes of the condition, develop new treatments or therapies, and improve the quality of life for affected individuals. Information on current clinical trials can be found on the ClinicalTrials.gov website.

In summary, propionic acidemia is a rare genetic condition caused by mutations in the PCCA and PCCB genes. It is associated with a deficiency in the propionyl-CoA carboxylase enzyme, which leads to the buildup of toxic substances in the body. Research and advocacy efforts are ongoing to improve understanding, diagnosis, and treatment options for this rare disease.

Inheritance

The inheritance pattern of propionic acidemia is autosomal recessive, which means that an individual must inherit one copy of the mutated gene from each parent in order to develop the condition. The gene associated with propionic acidemia is called the PCCA or PCCB gene, located on chromosome 13.

According to the genetic studies conducted by the National Center for Biotechnology Information (NCBI) and other scientific resources, mutations in the PCCA or PCCB gene result in a deficiency or malfunction of the enzyme propionyl-CoA carboxylase. This enzyme is essential for the breakdown of certain proteins and fats, and its deficiency leads to the toxic buildup of propionyl-CoA, causing the symptoms and complications associated with propionic acidemia.

The frequency of propionic acidemia is quite rare, with an estimated incidence of 1 in 100,000 to 1 in 150,000 births. It is considered one of the rare metabolic diseases.

ClinicalTrials.gov, a database of clinical studies, provides information on ongoing research and clinical trials related to propionic acidemia. This resource may be helpful for patients and families interested in participating in or learning about current research on the condition.

Additional information on inheritance and the genetic causes of propionic acidemia can be found in scientific articles and references available on PubMed, a resource that provides access to a wide range of medical literature.

For patient support and advocacy, there are organizations and resources available to assist individuals and families affected by propionic acidemia. Orphanet, a European database of rare diseases, provides information on the condition and resources for patients and healthcare providers. The Genetic and Rare Diseases Information Center (GARD) also offers information and support for individuals with rare diseases, including propionic acidemia.

Learn more about propionic acidemia and other organic acidemias through educational materials, patient support, and research resources available from organizations such as the Organic Acidemia Association (OAA) and the National Urea Cycle Disorders Foundation (NUCDF).

Sources and references
Resource Website
National Center for Biotechnology Information (NCBI) www.ncbi.nlm.nih.gov
ClinicalTrials.gov www.clinicaltrials.gov
PubMed pubmed.ncbi.nlm.nih.gov
Orphanet www.orpha.net
Genetic and Rare Diseases Information Center (GARD) rarediseases.info.nih.gov
Organic Acidemia Association (OAA) www.oaanews.org
National Urea Cycle Disorders Foundation (NUCDF) www.nucdf.org

Other Names for This Condition

Propionic acidemia is a rare genetic condition that is also known by other names, including:

  • Propionyl-CoA carboxylase deficiency
  • Propionic acidemia due to methylmalonyl-CoA mutase deficiency
  • PCCA deficiency
  • PCCB deficiency
  • Methylmalonic acidemia
  • Propionyl CoA carboxylase deficiency

Propionic acidemia is a genetic condition that is associated with a deficiency in the enzyme propionyl-CoA carboxylase. This deficiency leads to an accumulation of propionic acid in the body, which can be toxic. The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the gene for their child to be affected.

Propionic acidemia is a rare condition, with an estimated frequency of 1 in 100,000 to 1 in 1,000,000 births. It is more common in certain ethnic populations, including Ashkenazi Jews and Saudi Arabians.

Research on Propionic acidemia is ongoing, and there are ongoing clinical trials listed on clinicaltrials.gov. Additional studies are being conducted to learn more about the causes, inheritance, and associated genes of this condition.

For more information about Propionic acidemia, you can visit the following resources:

These resources can provide additional scientific articles, clinical studies, patient advocacy, and support for individuals and families affected by Propionic acidemia.

Additional Information Resources

Propionic acidemia is a rare genetic condition associated with a deficiency in the propionyl-CoA carboxylase enzyme. It is characterized by the accumulation of propionic acid and other toxic substances in the body, leading to a range of clinical symptoms.

For more information on propionic acidemia and other rare acidemias, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders. Propionic acidemia has a specific entry that provides detailed information on the condition and its associated genes.
  • Orphanet – A European reference portal for information on rare diseases and orphan drugs. The Orphanet entry on propionic acidemia provides clinical and scientific information, as well as links to research articles and patient support groups.
  • ClinicalTrials.gov – A registry of clinical trials worldwide. Searching for “propionic acidemia” on ClinicalTrials.gov may yield information on ongoing studies and research related to the condition.
  • PubMed – A database of scientific articles from biomedical literature. Searching for “propionic acidemia” on PubMed can provide access to research papers and studies on the condition and its causes.

These resources can help patients, caregivers, and healthcare professionals learn more about propionic acidemia and support further research into the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases, including propionic acidemia. GARD provides information on the causes, inheritance patterns, clinical features, and available treatments for over 7,000 rare diseases.

GARD offers a wide range of resources, including articles, patient support organizations, scientific studies, and research resources. Through GARD, you can learn more about propionic acidemia, including its frequency, associated symptoms, and available genetic testing options.

GARD provides links to other reliable sources of information, such as OMIM, Orphanet, PubMed, and clinicaltrials.gov, where you can find additional research studies, clinical trials, and references related to propionic acidemia and other rare genetic diseases.

If you or a loved one is affected by propionic acidemia, GARD can help you connect with patient support organizations, advocacy groups, and clinical resources for this condition. GARD also provides information on the genetic basis of propionic acidemia, including specific genes and genetic mutations associated with the condition.

Whether you are a patient, caregiver, or healthcare professional, GARD can provide you with the information and support you need to better understand and manage propionic acidemia. Visit the GARD website to learn more about this rare genetic condition and to access their comprehensive catalog of genetic diseases.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with propionic acidemia, it is important to have access to resources that can provide more information, support, and advocacy. Here are some additional patient support and advocacy resources that can help you navigate this rare genetic condition:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about propionic acidemia, including its causes, symptoms, inheritance, and frequency. You can find resources on their website to learn more about this condition and connect with support groups and organizations.
  • Orphanet: Orphanet is a European reference portal for information on rare diseases and orphan drugs. They provide an overview of propionic acidemia, clinical trials, research articles, and patient support groups.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs information about genes and genetic disorders. They provide scientific articles, references, and genetic information associated with propionic acidemia.
  • ClinicalTrials.gov: This website provides information about ongoing clinical studies and trials related to propionic acidemia. You can find information about potential treatments, experimental therapies, and opportunities to participate in research studies.
See Also:  SLC5A1 gene

In addition to these resources, there are various patient support groups and organizations dedicated to propionic acidemia. These groups can provide valuable support, community, and advocacy for individuals and families affected by this condition. Some examples include:

  • Propionic Acidemia Foundation: This organization aims to support propionic acidemia patients and their families by promoting research, raising awareness, and providing educational resources.
  • Organic Acidemia Association: The Organic Acidemia Association provides support, resources, and advocacy for individuals and families affected by organic acidemias, including propionic acidemia.

Remember, it is important to consult with healthcare professionals and genetic counselors for personalized information and guidance specific to your situation. These resources can serve as a starting point to learn more and connect with others who are affected by propionic acidemia.

Research Studies from ClinicalTrialsgov

Propionic acidemia, also known as propionic acidemia, is a rare genetic condition associated with a deficiency of the propionyl-CoA carboxylase enzyme. This condition causes the toxic buildup of propionic acid in the body, leading to a range of symptoms and complications.

Research studies from ClinicalTrialsgov provide valuable information about clinical trials and research studies conducted on propionic acidemia. These studies aim to enhance our understanding of the condition and develop new treatments and management strategies.

Here are some key resources to learn more about propionic acidemia and find additional information:

  • Orphanet: Orphanet is a comprehensive catalog of rare diseases, including propionic acidemia. It provides information about the frequency, causes, and associated genes of rare diseases. You can find scientific articles, patient support groups, and advocacy resources on their website.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that contains information about genetic conditions, including propionic acidemia. It provides detailed information about the genes, mutations, and clinical features associated with the condition.
  • PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles and research papers. You can search for specific keywords related to propionic acidemia to find relevant studies and publications.
  • Propionic Acidemia Center: The Propionic Acidemia Center is a specialized center that focuses on the diagnosis, treatment, and management of propionic acidemia. The center provides comprehensive clinical information, resources for patients and families, and updates on the latest research studies.

These resources, along with research studies from ClinicalTrialsgov, can help researchers, healthcare professionals, and patients stay updated on the latest advancements in the understanding and treatment of propionic acidemia.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative catalog of genes and diseases. It serves as a valuable resource for genetic research and clinical studies.

OMIM provides information on various genetic diseases, including rare disorders like propionic acidemia. It encompasses a wide range of diseases and their associated genes, causes, and inheritance patterns.

Propionic acidemia, also known as propionic aciduria, is a rare genetic condition caused by a deficiency of the enzyme propionyl-CoA carboxylase.

The frequency of propionic acidemia is estimated to be around 1 in 100,000 to 1 in 1,000,000 live births. It is characterized by the toxic buildup of propionic acid and other toxic metabolites in the body.

ClinicalTrials.gov provides additional information on ongoing clinical trials and research studies related to propionic acidemia. These studies aim to learn more about the condition and develop new treatments.

OMIM offers resources and support for patients and their families through advocacy groups and patient support organizations.

In the catalog, genes associated with propionic acidemia and other related conditions are listed, along with their names and additional information.

OMIM also provides scientific articles, references, and other scientific resources on propionic acidemia and related disorders. These resources are valuable for researchers and clinicians seeking more information about the condition.

For more information on propionic acidemia, you can visit Orphanet, a portal for rare diseases and orphan drugs. Orphanet provides comprehensive information on various rare genetic conditions, including propionic acidemia.

In conclusion, OMIM is a valuable catalog of genes and diseases, providing essential information on propionic acidemia and other rare genetic conditions. It serves as a crucial resource for research, clinical studies, and patient support.

Scientific Articles on PubMed

Propionic acidemia is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by a deficiency of the enzyme propionyl-CoA carboxylase, which leads to the toxic buildup of propionic acid in the body. The condition is associated with a variety of symptoms, including metabolic acidosis, developmental delay, and seizures.

Research on propionic acidemia has been conducted to better understand its causes and develop effective treatments. Numerous scientific articles on this topic can be found on PubMed, a database of biomedical literature. These articles provide valuable information about the genetics, clinical presentation, and management of the condition.

OMIM and Orphanet are two resources that catalog information about rare diseases, including propionic acidemia. They provide comprehensive information about the genetic inheritance, associated genes, clinical features, and available treatments for this condition.

ClinicalTrials.gov is another valuable resource for finding research studies and clinical trials related to propionic acidemia. These studies aim to further our understanding of the disease and find new treatments to support patients with this rare condition.

Additional support and advocacy for propionic acidemia can also be found through patient advocacy organizations. These organizations provide resources, information, and support to individuals and families affected by this condition.

By studying the scientific articles, clinical trials, and resources available, researchers and healthcare professionals can learn more about propionic acidemia and work towards improved diagnosis, management, and treatment for affected individuals.

References

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