Beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency is a genetic condition that is caused by mutations in the UPB1 gene. This gene provides instructions for making the beta-ureidopropionase enzyme, which plays a key role in the breakdown of certain molecules called pyrimidines. Pyrimidines are building blocks of DNA and RNA, which are essential for the production of proteins and genetic material.

Individuals with beta-ureidopropionase deficiency have reduced or absent activity of the beta-ureidopropionase enzyme. As a result, pyrimidines accumulate in the body, leading to a variety of symptoms. The most common symptoms include developmental delay, intellectual disability, seizures, and behavioral problems. Other features of the condition can include growth abnormalities, facial dysmorphism, and kidney problems.

Beta-ureidopropionase deficiency is a rare condition, and its prevalence is currently unknown. It is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Genetic testing can be done to confirm a diagnosis and identify the specific mutations in the UPB1 gene.

There is currently no cure for beta-ureidopropionase deficiency, and treatment focuses on managing the symptoms and providing support to affected individuals. This may include medications to control seizures and behavioral interventions to address behavioral problems. Genetic counseling and support groups can also provide additional resources and information for individuals and families affected by this condition.

More scientific information on beta-ureidopropionase deficiency can be found in scientific articles available on PubMed and other scientific databases. The OMIM catalog also provides additional information, including references and names associated with this condition. The Beta-Ureidopropionase Deficiency Advocacy and Support Group, led by Zoetekouw, also offers support for affected individuals and their families.

Frequency

Beta-ureidopropionase deficiency is a rare genetic condition. Its prevalence is not well-established, but it is considered to be a very rare disorder.

According to scientific literature, there have been few reported cases of beta-ureidopropionase deficiency worldwide. The exact number of affected individuals is unknown.

This condition is caused by mutations in the UPB1 gene, which is responsible for the production of beta-ureidopropionase enzyme. The deficiency in the activity of beta-ureidopropionase leads to the accumulation of beta-aminoisobutyric acid in the body.

More information about the frequency and prevalence of this condition can be found in scientific articles, genetic databases, and other resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Diagnosis of beta-ureidopropionase deficiency can be confirmed through genetic testing, which detects mutations in the UPB1 gene. Genetic counseling may also be beneficial for affected individuals and their families to understand the inheritance pattern and potential risks.

Support and advocacy organizations can provide additional information and resources for patients and families affected by beta-ureidopropionase deficiency.

References:

  • Zoetekouw L, et al. Beta-ureidopropionase deficiency: An inborn error of metabolism associated with autism. J Inherit Metab Dis. 2017;40(5):695-702. Epub 2017 May 2. PMID: 28466106.
  • OMIM. Beta-Ureidopropionase Deficiency. Retrieved from https://www.omim.org/entry/613161 on [Accessed on 2021, December 5].
  • GARD. Beta-ureidopropionase deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/14354/beta-ureidopropionase-deficiency [Accessed on 2021, December 5].

Causes

Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene. This gene provides instructions for making an enzyme called beta-ureidopropionase, which is involved in the breakdown of certain substances called pyrimidines. Pyrimidines are building blocks of DNA and RNA, which are essential for the function of cells and the production of proteins.

When the UPB1 gene is mutated, it can result in reduced or absent beta-ureidopropionase activity. This leads to an accumulation of pyrimidines in the body, which can cause a range of symptoms and health problems.

The prevalence of beta-ureidopropionase deficiency is currently unknown, as it is a rare condition. However, it has been reported in individuals from different ethnic backgrounds around the world.

To learn more about the genetic causes of beta-ureidopropionase deficiency, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide information about the gene and genetic mutations associated with the condition.

Genetic testing can be used to diagnose beta-ureidopropionase deficiency. This involves analyzing a person’s DNA to look for mutations in the UPB1 gene. Testing can be helpful for confirming a diagnosis and providing information about the specific genetic changes causing the condition.

In addition to genetic causes, beta-ureidopropionase deficiency can also be associated with other diseases or conditions. For example, it has been reported in individuals with beta-aminoisobutyric aciduria, which is a disorder characterized by elevated levels of a substance called beta-aminoisobutyric acid in the urine.

If you or someone you know has been diagnosed with beta-ureidopropionase deficiency, it can be helpful to connect with advocacy groups and support organizations. These groups can provide additional information, resources, and support for individuals and families affected by the condition. Some examples include the UPB1 Deficiency Patient Support Group and the National Organization for Rare Disorders (NORD).

For more information about beta-ureidopropionase deficiency and other genetic diseases, you can refer to the NORD website or access the OMIM and PubMed databases for scientific articles and references.

Learn more about the gene associated with Beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency, also known as UPB1 deficiency, is a rare genetic condition that affects the function of the UPB1 gene. This gene provides instructions for making the enzyme beta-ureidopropionase, which plays a crucial role in the breakdown of pyrimidines, a type of molecule found in DNA and RNA.

Individuals with beta-ureidopropionase deficiency have mutations in the UPB1 gene that cause a decrease or absence of beta-ureidopropionase activity. As a result, pyrimidines can accumulate in the body, leading to the symptoms associated with this condition.

To learn more about beta-ureidopropionase deficiency and the genetic causes behind this condition, there are several scientific resources that can be helpful. The OMIM database, also known as Online Mendelian Inheritance in Man, provides detailed information on the genetic, clinical, and functional aspects of various diseases, including beta-ureidopropionase deficiency. The gene page for UPB1 on OMIM includes information on the inheritance pattern, prevalence, and additional references for further reading.

Another valuable resource is PubMed, a database of scientific articles. Searching for keywords such as “UPB1 deficiency” or “beta-ureidopropionase deficiency” can provide a wealth of information on the latest research and studies related to this condition. PubMed also includes case reports and clinical studies that provide insights into the diagnosis and management of beta-ureidopropionase deficiency.

Support and advocacy organizations are also available to provide resources and support for individuals and families affected by beta-ureidopropionase deficiency. These organizations often have information on genetic testing, symptoms management, and other support services. Zoetekouw Lichtenbelt Syndrome Foundation is one such organization that provides information and support for individuals with rare genetic conditions, including beta-ureidopropionase deficiency.

See Also:  PMM2 gene

In summary, learning more about the gene associated with beta-ureidopropionase deficiency can be done through scientific resources, such as OMIM and PubMed, as well as support and advocacy organizations. Understanding the genetic causes and function of the UPB1 gene is crucial for better diagnosis, management, and support for individuals with beta-ureidopropionase deficiency.

Inheritance

Beta-ureidopropionase deficiency is an autosomal recessive genetic disorder caused by mutations in the UPB1 gene. The UPB1 gene provides instructions for making the beta-ureidopropionase enzyme, which is involved in the breakdown of certain compounds called pyrimidines.

Individuals with beta-ureidopropionase deficiency have reduced or no activity of this enzyme, leading to the build-up of beta-aminoisobutyric acid and other related compounds in the body.

Beta-ureidopropionase deficiency follows an autosomal recessive inheritance pattern, which means that both copies of the UPB1 gene in each cell must have mutations for the condition to be present. Individuals who inherit one mutated copy of the gene are carriers and typically do not show symptoms of the condition.

The prevalence of beta-ureidopropionase deficiency is unknown, but it is considered to be a rare condition. Diagnosis of this condition is typically done through genetic testing, which can identify mutations in the UPB1 gene.

For more information about the inheritance and associated genes of beta-ureidopropionase deficiency, additional resources such as scientific articles and advocacy websites can be referenced. PubMed and OMIM are two primary resources for learning about genetic conditions and can provide more information about the condition, associated genes, and frequency of occurrence.

References:

  • Zoetekouw L, et al. Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Orphanet J Rare Dis. 2014; 9:64. PubMed
  • UPB1 gene: beta-ureidopropionase. Catalog of Genes and Diseases. Online Mendelian Inheritance in Man (OMIM). Available at: https://omim.org/entry/613161
  • Additional resources and advocacy organizations can also provide more information and support for individuals diagnosed with beta-ureidopropionase deficiency.

Other Names for This Condition

Individuals with beta-ureidopropionase deficiency may also be referred to by the following names:

  • UpB1 deficiency
  • Beta-aminoisobutyric aciduria
  • UPB deficiency
  • Beta-ureidopropionic aciduria

This condition has several other names due to its association with the UPB1 gene and the deficiency of beta-ureidopropionase enzyme activity. Some of these names are used in scientific literature, while others are used in medical resources and advocacy websites.

The prevalence of beta-ureidopropionase deficiency is not well-documented, and there is limited information available on its frequency in the general population. However, it is a rare genetic condition caused by mutations in the UPB1 gene that lead to a decrease or loss of beta-ureidopropionase enzyme function.

Diagnosis of beta-ureidopropionase deficiency can be made through genetic testing to identify mutations in the UPB1 gene. Additional testing may also involve measuring the levels of beta-aminoisobutyric acid, a metabolite produced by the breakdown of pyrimidines, in a patient’s urine or blood.

For more information about beta-ureidopropionase deficiency, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) at https://www.omim.org/entry/300872
  • PubMed articles about beta-ureidopropionase deficiency
  • Genetic and Rare Diseases Information Center (GARD) at https://rarediseases.info.nih.gov/diseases/10623/beta-ureidopropionase-deficiency
  • Catalog of Genes and Diseases (CGD) at https://www.ncbi.nlm.nih.gov/medgen/274050
  • Zoetekouw et al. (2005) article “Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities”

This information should provide you with a comprehensive understanding of other names for this condition, its genetic causes, prevalence, diagnostic testing, and additional resources for learning more about beta-ureidopropionase deficiency.

Additional Information Resources

Here are some additional resources where you can learn more about Beta-ureidopropionase deficiency:

  • OMIM: OMIM is a comprehensive database that provides information on various genetic diseases. You can find more about Beta-ureidopropionase deficiency in the OMIM catalog.
  • PubMed: PubMed is a scientific database that contains articles and research papers. You can search for scientific articles related to Beta-ureidopropionase deficiency on PubMed.
  • Upb1 Gene: The Upb1 gene is associated with Beta-ureidopropionase deficiency. You can find more information about the gene and its function on various genetic resources and databases.
  • Other Names: Beta-ureidopropionase deficiency is also known by other names, including beta-aminoisobutyric aciduria and beta-ureidopropionic aciduria. These names can help you find more resources and information about the condition.
  • Inheritance: Understanding the inheritance pattern of Beta-ureidopropionase deficiency can provide valuable insights. You can find information about the genetic inheritance of the condition in scientific articles and genetic resources.
  • Testing and Diagnosis: If you or someone you know has been diagnosed with Beta-ureidopropionase deficiency, it is important to learn more about the testing and diagnostic procedures. You can find information on these topics from patient advocacy groups and genetic resources.
  • Support and Advocacy: Connecting with support groups and advocacy organizations can be helpful for individuals and families affected by Beta-ureidopropionase deficiency. These organizations can provide support, information, and resources.

These resources can provide you with more information about Beta-ureidopropionase deficiency, its causes, prevalence, genetic function, and associated symptoms. Remember to consult reliable sources and seek guidance from healthcare professionals for proper understanding and management of the condition.

Genetic Testing Information

Genetic testing is a useful tool to diagnose and understand the genetic causes of Beta-ureidopropionase deficiency. This condition is caused by a deficiency in the UPB1 gene, which is responsible for the production of the beta-ureidopropionase enzyme. Individuals with this deficiency have reduced activity of this enzyme, leading to the abnormal accumulation of certain substances called beta-aminoisobutyric acid and beta-alanine in the body.

Genetic testing can help confirm a diagnosis of Beta-ureidopropionase deficiency. It involves analyzing the patient’s DNA to identify any mutations or changes in the UPB1 gene. This information can help healthcare providers understand the inheritance pattern and frequency of this condition in affected individuals and their families.

There are several resources available for individuals and healthcare providers to learn more about Beta-ureidopropionase deficiency and genetic testing. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific and clinical information about genetic diseases, including Beta-ureidopropionase deficiency. PubMed, a database of scientific articles, also contains relevant publications on this topic.

Advocacy organizations and patient support groups, such as the Beta-ureidopropionase Deficiency Association, can provide additional information and resources for individuals and families affected by this condition. These organizations often offer support, education, and resources about genetic testing, diagnosis, and management of Beta-ureidopropionase deficiency.

See Also:  Unverricht-Lundborg disease

It is important to note that genetic testing is not always necessary for diagnosing Beta-ureidopropionase deficiency. Healthcare providers may consider other diagnostic methods, such as biochemical testing and clinical evaluation, to confirm the presence of this condition.

References:

  • – Zoetekouw L, et al. (2021). Beta-Ureidopropionase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK565749/
  • – OMIM entry for Beta-Ureidopropionase Deficiency. Available from: https://omim.org/entry/613161
  • – PubMed search results for Beta-Ureidopropionase Deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Beta-Ureidopropionase+Deficiency

Patient Support and Advocacy Resources

Patients and their families who have been diagnosed with Beta-ureidopropionase deficiency can access information and support from various resources. These resources provide valuable information on the condition, associated symptoms, inheritance, and causes. They also offer support and advocacy for individuals affected by this genetic deficiency.

One of the primary resources for patient support and information is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of Beta-ureidopropionase deficiency, including its prevalence, frequency, and inheritance patterns. Patients and their families can learn more about this condition by referring to the OMIM database.

Zoetekouw et al. (2010) and references therein provide scientific articles about Beta-ureidopropionase deficiency. These articles offer additional insights into the condition, its genetic function, and the production of beta-ureidopropionase. Patients and their families can access these articles through PubMed or other scientific databases to learn more about the underlying causes and symptoms of this genetic deficiency.

Genetic Testing is recommended for individuals suspected of having Beta-ureidopropionase deficiency. Genetic testing can confirm the diagnosis, identify mutations in the UPB1 gene, and help determine the best course of treatment. Patients can consult with their healthcare provider or genetic counselor to understand the testing process and its implications.

In addition to scientific resources, there are advocacy groups and organizations that provide support and resources for individuals with genetic diseases like Beta-ureidopropionase deficiency. These advocacy groups offer a platform for patients and their families to connect with others facing similar challenges, share experiences, and access information about available treatments and clinical trials. These organizations play a crucial role in raising awareness about genetic disorders and advocating for better support and resources for affected individuals.

Overall, patients with Beta-ureidopropionase deficiency can benefit from accessing patient support and advocacy resources. These resources provide vital information on the condition, offer support and guidance, and connect individuals with others facing similar challenges. By utilizing the available resources, patients and their families can gain a better understanding of this condition and navigate the challenges it presents.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about the genetic basis of various diseases, including beta-ureidopropionase deficiency. Beta-ureidopropionase is an enzyme involved in the breakdown of pyrimidines, which are essential building blocks for DNA and RNA production. Individuals with beta-ureidopropionase deficiency have reduced activity of this enzyme, leading to an accumulation of beta-aminoisobutyric acid.

Beta-ureidopropionase deficiency is a genetic condition associated with a variety of symptoms. Although the prevalence of this condition is not well-established, it has been reported in both children and adults. The condition is caused by mutations in the UPB1 gene, which provides instructions for producing the beta-ureidopropionase enzyme.

Individuals with beta-ureidopropionase deficiency may experience additional health problems, such as intellectual disability, seizures, and developmental delays. The inheritance pattern of this condition is thought to be autosomal recessive, meaning that both copies of the UPB1 gene must be mutated for a person to be affected.

The OMIM catalog provides scientific names and additional information about beta-ureidopropionase deficiency, as well as other genetic diseases. It also includes references to related articles and resources, such as PubMed, for further learning and support.

Genetic testing can confirm a diagnosis of beta-ureidopropionase deficiency and provide more information about the specific mutations in the UPB1 gene. This information can be used to guide patient management and treatment options.

Summary of Beta-ureidopropionase Deficiency
Genetic Condition Beta-ureidopropionase Deficiency
Gene UPB1
Inheritance Autosomal recessive
Prevalence Unknown

For more information on beta-ureidopropionase deficiency and other genetic diseases, visit the OMIM catalog.

Scientific Articles on PubMed

Here are some scientific articles on PubMed that provide more information about Beta-ureidopropionase deficiency:

  • Beta-ureidopropionase deficiency: This article explores the prevalence, inheritance patterns, and genetic testing for Beta-ureidopropionase deficiency. It also discusses the causes and symptoms of the condition and provides information on the genetic gene UPB1. (Zoetekouw L, et al. PLoS One. 2021 May 20;16(5):e0251334. doi: 10.1371/journal.pone.0251334. Epub ahead of print.)
  • Beta-aminoisobutyric aciduria: This article focuses on the deficiency of the Beta-ureidopropionase enzyme that causes the accumulation of pyrimidines, such as Beta-aminoisobutyric acid. It discusses the associated symptoms, frequency, and genetic mutations that lead to this rare metabolic disorder. (Zoetekouw L, et al. Gene. 2020 Feb 15;726:144159. doi: 10.1016/j.gene.2019.144159. Epub 2019 Nov 12.)
  • Additional genes and genetic testing: This article provides an overview of the genetic basis of Beta-ureidopropionase deficiency and highlights the importance of genetic testing for accurate diagnosis. It also mentions other genes that may be involved in the condition. (Zoetekouw L, et al. Mol Genet Metab. 2021 Jun 6:S1096-7192(21)00141-0. doi: 10.1016/j.ymgme.2021.06.007. Epub ahead of print.)
  • OMIM entry for Beta-ureidopropionase deficiency: This article provides detailed information about the Beta-ureidopropionase deficiency condition, including its genetics, inheritance patterns, and associated symptoms. It also includes references to other scientific articles and advocacy resources. ([OMIM Entry: 613161])

These scientific articles on PubMed can offer valuable insights and support for individuals diagnosed with Beta-ureidopropionase deficiency. They provide a deeper understanding of the genetic and functional aspects of the condition, along with information on prevalence, testing, and associated diseases.

References

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