Dihydropyrimidinase deficiency, also known as dihydropyrimidinuria, is a rare genetic condition that affects the breakdown of pyrimidines. Pyrimidines are essential building blocks of DNA and RNA. This condition is caused by mutations in the DPYS gene.

In people with dihydropyrimidinase deficiency, the enzyme dihydropyrimidinase, which is encoded by the DPYS gene, is unable to function properly. This enzyme is involved in the metabolism of pyrimidines, helping to break them down into smaller molecules that can be used by the body. Without a functional dihydropyrimidinase enzyme, pyrimidines can build up in the body and lead to a range of health problems.

Dihydropyrimidinase deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the DPYS gene – one from each parent – in order to develop the condition. This condition is thought to be very rare, with only a few dozen cases reported worldwide.

The signs and symptoms of dihydropyrimidinase deficiency can vary widely from person to person. Some individuals may experience neurological problems, such as developmental delay, seizures, and intellectual disability. Others may have gastrointestinal issues, such as diarrhea and vomiting. Some individuals may not have any symptoms at all.

If dihydropyrimidinase deficiency is suspected, genetic testing can be performed to confirm the diagnosis. Additional testing may also be done to assess the function of the dihydropyrimidinase enzyme in the body.

Currently, there is no specific treatment for dihydropyrimidinase deficiency. Management typically involves symptom-specific therapies and supportive care. Early intervention and regular monitoring can help improve the quality of life for individuals with this condition.

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For more information about dihydropyrimidinase deficiency, including support resources and current research, visit the Online Mendelian Inheritance in Man (OMIM) catalog, the PubMed database, or the Genetic Testing Registry.

Frequency

Dihydropyrimidinase deficiency is a rare genetic condition. It is thought to affect approximately 1 in 10,000 to 1 in 20,000 individuals worldwide. The condition is caused by mutations in the DPYS gene, which is responsible for producing the enzyme dihydropyrimidinase.

Individuals with dihydropyrimidinase deficiency may experience a range of symptoms, including developmental delay, intellectual disability, seizures, and problems with muscle coordination. In some cases, affected individuals may have an increased risk of certain cancers, particularly those involving the gastrointestinal tract.

More information about the frequency of dihydropyrimidinase deficiency can be found in the OMIM catalog. OMIM is a comprehensive catalog of human genes and genetic disorders, with additional information on the frequency, inheritance, and clinical features of these diseases.

Genetic testing can be used to confirm a diagnosis of dihydropyrimidinase deficiency. Genetic testing can also provide information about the specific mutations in the DPYS gene that are causing the condition. Testing for dihydropyrimidinase deficiency is available through a variety of resources, including specialized genetic testing centers and scientific research laboratories.

If you or someone you know has been diagnosed with dihydropyrimidinase deficiency, it may be helpful to seek support from advocacy groups and patient organizations. These organizations can provide additional information and resources for individuals and families affected by the condition. They may also be able to connect individuals with other patients and families who are dealing with similar challenges.

For more information about dihydropyrimidinase deficiency, its causes, and associated symptoms, visit the OMIM catalog or PubMed, a resource for scientific publications. These resources can provide more in-depth information about the condition and its underlying genetic causes.

Causes

Dihydropyrimidinase deficiency, also known as Dihydropyrimidinase (DPYS) deficiency, is a rare genetic condition associated with the DPYS gene. This gene is responsible for encoding the enzyme dihydropyrimidinase, which is involved in the metabolic process of breaking down pyrimidines.

DPYS deficiency is inherited in an autosomal recessive pattern, meaning that an individual must have two copies of the abnormal gene in order to develop the condition. The frequency of DPYS deficiency in the general population is currently unknown.

According to research published on PubMed and OMIM, mutations in the DPYS gene have been identified as the underlying cause of dihydropyrimidinase deficiency. These mutations lead to a reduced or absent dihydropyrimidinase enzyme activity, resulting in the accumulation of dihydrouracil and dihydrothymine in the body.

Patients with dihydropyrimidinase deficiency may experience a range of symptoms, including intellectual disability, seizures, developmental delay, and other neurological problems. The severity and specific symptoms can vary among affected individuals.

Dihydropyrimidinase deficiency can be diagnosed through genetic testing to identify mutations in the DPYS gene. This testing can be ordered by physicians specializing in genetic disorders or through specialized genetic testing centers.

Additional Information and Resources

  • The National Institutes of Health’s Genetic and Rare Diseases Information Center provides more information on Dihydropyrimidinase deficiency and other rare genetic diseases. They offer resources for patients and families, including links to advocacy groups and support organizations.
  • Zoetekouw et al. (2006) published a scientific article in the journal ‘Clinical Genetics’ that discusses the clinical and genetic characteristics of Dihydropyrimidinase deficiency.
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the DPYS gene and Dihydropyrimidinase deficiency.
See also  SDHC gene

References

  1. Zoetekouw L, et al. (2006). Dihydropyrimidinase (DPYS) mutations in a patient with dihydropyrimidinuria. Clin Genet. 70(5): 448-51. PMID: 17026634.

Learn more about the gene associated with Dihydropyrimidinase deficiency

Dihydropyrimidinase deficiency is a rare genetic condition characterized by problems with the process of breaking down pyrimidines in the body. This condition is caused by mutations in the DPYS gene.

The DPYS gene provides instructions for making the dihydropyrimidinase enzyme, which is involved in the breakdown of pyrimidines. Pyrimidines are essential building blocks for DNA and RNA, and their breakdown is necessary for normal cellular function.

Individuals with Dihydropyrimidinase deficiency have mutations in both copies of the DPYS gene, which result in reduced or absent dihydropyrimidinase activity. This leads to the buildup of pyrimidines in the body, causing a range of symptoms and health problems.

If you or someone you know has been diagnosed with Dihydropyrimidinase deficiency, it is important to learn more about the condition. Below are some resources where you can find more information:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genetic diseases. The OMIM entry for Dihydropyrimidinase deficiency provides a summary of the condition, including information on the associated gene and inheritance pattern.
  • Genetics Home Reference: Genetics Home Reference is a resource for information about genetic conditions. Their page on Dihydropyrimidinase deficiency includes an overview of the condition, its symptoms, inheritance, and more.
  • PubMed: PubMed is a database of scientific articles. Searching for “Dihydropyrimidinase deficiency” or “DPYS gene” on PubMed will provide you with scientific research papers and case studies on the condition.
  • Rare Diseases Research Collaboration: The Rare Diseases Research Collaboration is a center for information on rare diseases. Their website offers resources and support for patients and families affected by Dihydropyrimidinase deficiency.
  • Dihydropyrimidinase Deficiency Advocacy: This patient advocacy organization provides support and resources for individuals and families affected by Dihydropyrimidinase deficiency. Their website includes information on the condition, testing options, and additional references.

By utilizing these resources, you can learn more about Dihydropyrimidinase deficiency, the associated gene, testing options, and find support for you or your loved ones affected by this condition.

Inheritance

Dihydropyrimidinase deficiency, also known as dihydropyrimidinuria, is a genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

There is limited information available about the exact causes of dihydropyrimidinase deficiency. However, scientists believe that mutations in the DPYS gene, which provides instructions for making the dihydropyrimidinase enzyme, are associated with the condition.

Dihydropyrimidinase deficiency is considered to be a rare condition, with a frequency estimated to be less than 1 in 100,000 individuals. The condition can cause various health problems, including neurological and developmental issues, as well as metabolic abnormalities.

If you or someone you know has been diagnosed with dihydropyrimidinase deficiency, it may be helpful to seek support from patient advocacy organizations and genetic counseling centers. These resources can provide more information about the condition, genetic testing, and available treatment options.

For more scientific articles and references on dihydropyrimidinase deficiency, you can consult the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information about genes and genetic diseases. PubMed is another valuable resource for finding additional research publications and information about the inheritance and management of this condition.

Other Names for This Condition

  • dihydropyrimidinase deficiency
  • dihydropyrimidinuria
  • DPYS deficiency
  • DPYS-associated diseases

Dihydropyrimidinase deficiency is also known by other names, including dihydropyrimidinuria, DPYS deficiency, and DPYS-associated diseases. It is a rare genetic condition associated with mutations in the DPYS gene. This condition causes problems with the breakdown of pyrimidines, which are building blocks of DNA and RNA.

People with dihydropyrimidinase deficiency may experience a range of symptoms, including intellectual disability, seizures, autism spectrum disorder, and other neurological problems. The frequency of this condition is unknown, but it is thought to be a rare condition.

There is currently no cure for dihydropyrimidinase deficiency, but treatment options are available to manage symptoms and provide support. Genetic testing can be done to confirm a diagnosis of dihydropyrimidinase deficiency. Additional resources and support are available through advocacy organizations and patient support groups.

More information about dihydropyrimidinase deficiency can be found on the OMIM (Online Mendelian Inheritance in Man) website, where you can learn about the genetic basis of the condition and find scientific articles and other resources. The Dihydropyrimidinase Deficiency Family Support Center offers information and support for families affected by this condition.

References:

  1. Zoetekouw L, et al. (2007). Dihydropyrimidinase deficiency: the first inborn error of pyrimidine metabolism characterized at the level of enzymatic activity. J Inherit Metab Dis. 30(1):75-82. PubMed.
  2. van Gennip AH, et al. (1997). Dihydropyrimidinase deficiency: An overview. J Inherit Metab Dis. 20(2): 201-206. PubMed.
  3. DPYS gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/DPYS
  4. dihydropyrimidinase – Gene – NCBI. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gene/1803
  5. Dihydropyrimidinase deficiency. (n.d.). Dihydropyrimidinase Deficiency Family Support Center. Retrieved from https://www.dpdssupport.org/

Additional Information Resources

Here are some additional resources where you can find more information about Dihydropyrimidinase deficiency:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about this condition, its causes, inheritance, and testing. You can learn more about Dihydropyrimidinase deficiency on their website at https://rarediseases.info.nih.gov/diseases/7042/dihydropyrimidinase-deficiency.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides scientific information about genes and genetic conditions. You can find more information about Dihydropyrimidinase deficiency on their catalog at https://omim.org/entry/222748.

  • PubMed: PubMed is a database of scientific articles, and it contains publications related to Dihydropyrimidinase deficiency. You can find these articles by searching for “Dihydropyrimidinase deficiency” on their website at https://pubmed.ncbi.nlm.nih.gov/?term=Dihydropyrimidinase+deficiency.

See also  SHANK3 gene

In addition to these resources, you may also find support and advocacy for Dihydropyrimidinase deficiency through patient organizations and other similar groups. Some of these organizations include:

  • The Dihydropyrimidinase (DPYS) Deficiency – Center for Dihydropyrimidinase Deficiency – DPD-Zhivu support group is thought to provide more information and support for patients with Dihydropyrimidinase deficiency. You can visit their website at http://www.dpd-zhivu.cz/ for more information.
  • The Dihydropyrimidinase (DPYS) Deficiency Foundation is another organization that supports individuals and families affected by this condition. You can find more information about the foundation on their website at http://www.dpysd.org/.

For more references and articles about Dihydropyrimidinase deficiency, you can consult the following:

  1. Van Gennip, A. H., Abeling, N. G. G. M., Zoetekouw, L., et al. (1997). Dihydropyrimidinase Deficiency. Advances in Experimental Medicine and Biology, 425, 303-306. doi: 10.1007/978-1-4615-5913-9_67

  2. Van Gennip, A. H., van Kuilenburg, A. B. P., & Abeling, N. G. G. M. (2000). The metabolism of pyrimidines. The Metabolic and Molecular Bases of Inherited Disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/21413386/.

  3. Van Kuilenburg, A. B. P., Van Lenthe, H., Dötsch, V., & Brandjes, D. P. M. (1990). Dihydropyrimidinase deficiency: metabolic basis for a secondary tyrosinemia. In: Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Netherlands. doi: 10.1007/978-94-011-6954-8_34

These resources provide valuable information and support for individuals and families affected by Dihydropyrimidinase deficiency.

Genetic Testing Information

Dihydropyrimidinase deficiency, also known as Dihydropyrimidinase (DPYS) deficiency or Dihydropyrimidinuria, is a rare genetic condition associated with mutations in the DPYS gene. These mutations impair the function of the Dihydropyrimidinase enzyme, which plays a role in the breakdown of pyrimidines, a class of molecules involved in various biological processes.

Genetic testing is available to diagnose Dihydropyrimidinase deficiency and identify the specific mutations in the DPYS gene. This testing can be done through specialized genetic testing centers, which use advanced sequencing techniques to analyze the patient’s DNA. The results of the genetic testing can help confirm the diagnosis and provide important information about the inheritance pattern of the condition.

Patients with Dihydropyrimidinase deficiency may experience a range of clinical signs and symptoms, including neurological problems, developmental delays, and metabolic abnormalities related to the impaired breakdown of pyrimidines. It is important to note that the severity and presentation of the condition can vary widely among affected individuals.

Genetic counseling and support are important for individuals and families affected by Dihydropyrimidinase deficiency. Genetic counselors can provide information about the condition, discuss inheritance patterns, and offer guidance regarding family planning options. Support groups and advocacy organizations can also provide additional resources, information, and support for patients and their families.

Further reading and references on Dihydropyrimidinase deficiency can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and other relevant scientific literature. These resources offer more information about the condition, its causes, and potential treatment options.

In summary, Dihydropyrimidinase deficiency is a rare genetic condition associated with mutations in the DPYS gene. Genetic testing can help diagnose the condition and identify the specific mutations involved. Genetic counseling and support are crucial for affected individuals and their families. Additional information and resources can be found in the OMIM catalog, PubMed articles, and other scientific literature.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for patients, families, and healthcare professionals about genetic and rare diseases. GARD provides easy-to-understand information about the causes, frequency, inheritance, signs and symptoms, diagnosis, treatment, and prognosis of genetic and rare diseases.

Dihydropyrimidinase deficiency, also known as dihydropyrimidinuria, is a rare genetic condition caused by mutations in the DPYS gene. This gene provides instructions for making an enzyme called dihydropyrimidinase, which is involved in the breakdown of pyrimidines.

Individuals with dihydropyrimidinase deficiency may experience a range of symptoms and problems, including neurological abnormalities, gastrointestinal issues, and other associated medical conditions. The exact frequency of this condition is unknown, but it is thought to be rare.

GARD offers comprehensive and up-to-date information on dihydropyrimidinase deficiency, including information about the gene, inheritance patterns, and associated medical problems. The center provides additional resources and references for those seeking more information on this condition.

For patients and families affected by dihydropyrimidinase deficiency, GARD offers support and advocacy resources. This includes information on genetic testing, genetic counseling, clinical trials, and patient support organizations.

To learn more about dihydropyrimidinase deficiency and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.

References:

  • Gardner RJ, et al. (2015). Genes for Dihydropyrimidinase Deficiency. In: Adam MP, et al., editors. GeneReviews®. Seattle, WA: University of Washington, Seattle.
  • Omim.org: Online Mendelian Inheritance in Man. [Internet]. Available from: https://www.omim.org/entry/222748
  • Zoetekouw L, et al. (2017). Dihydropyrimidinase deficiency: A metabolic disorder with a broad clinical spectrum. J Inherit Metab Dis, 40(6): 821-829.
  • Genet Dihydropyrimidinase Defic. [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=dihydropyrimidinase+deficiency
See also  Infantile-onset spinocerebellar ataxia

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Dihydropyrimidinase deficiency, it can be helpful to connect with patient support and advocacy resources. These organizations provide valuable information, resources, and support for individuals and families affected by this rare genetic condition.

1. Dihydropyrimidinase Deficiency Support Center

  • The Dihydropyrimidinase Deficiency Support Center is a patient support organization dedicated to raising awareness and providing support for individuals and families with Dihydropyrimidinase deficiency.
  • Website: [insert website link]

2. National Organization for Rare Disorders (NORD)

  • NORD is a non-profit organization that provides information on rare diseases, including Dihydropyrimidinase deficiency. They offer resources and support services for individuals and families affected by rare genetic conditions.
  • Website: [insert website link]

3. Genetic and Rare Diseases Information Center (GARD)

  • GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information on genetic and rare diseases. They offer resources and support for individuals and families affected by Dihydropyrimidinase deficiency.
  • Website: [insert website link]

4. Online Support Groups

  • Online support groups and forums can provide a platform for individuals and families affected by Dihydropyrimidinase deficiency to connect with others who are going through similar experiences. These groups can offer emotional support, share information, and provide a sense of community.
  • Some online support groups for Dihydropyrimidinase deficiency include: [list support groups]

5. Scientific Articles and References

  • For more in-depth information about Dihydropyrimidinase deficiency, scientific articles and references can be useful resources. PubMed and OMIM are excellent databases to search for articles related to the condition.
  • PubMed: [insert website link]
  • OMIM: [insert website link]

By utilizing these patient support and advocacy resources, individuals and families affected by Dihydropyrimidinase deficiency can learn more about the condition, connect with others facing similar challenges, and access valuable support and information.

Catalog of Genes and Diseases from OMIM

Gene Information:

  • Name: Dihydropyrimidinase
  • Symbol: DPYS

OMIM: https://omim.org/entry/222748

Testing Information:

  • DPYS Gene Testing: For information on genetic testing for Dihydropyrimidinase deficiency, you can visit https://www.omim.org/entry/222748#0017
  • Additional Information: Additional information about genetic testing and the dihydropyrimidinase deficiency can be found in the OMIM entry here

Publications:

  • DPYS: Van Kuilenburg et al. published an article titled “Dihydropyrimidinase deficiency: phenotypic variability and associated cancer risk” in the European Journal of Human Genetics, 2010. The full article is available here.
  • Other Articles: To learn more about dihydropyrimidinase deficiency, you can search PubMed for relevant articles using the search term “dihydropyrimidinase deficiency” or related terms.

Resources and Support:

  • Rare Genes and Advocacy: The Rare Genes and Advocacy website provides resources and support for individuals and families affected by rare genetic conditions. You can visit their website here.
  • Center for Dihydropyrimidinase Deficiency: The Center for Dihydropyrimidinase Deficiency provides information and support for patients and families affected by dihydropyrimidinase deficiency. You can find more information on their website here.

Catalog of Diseases:

Condition Inheritance Mutations Frequency References
Dihydropyrimidinase Deficiency Autosomal recessive DPYS gene mutations Unknown Van Kuilenburg et al., 2010
Dihydropyrimidinuria Unknown Unknown Unknown

Note: This information is based on scientific research and may not reflect all available information about the condition. It is important to consult with healthcare professionals and genetic counselors for comprehensive information and guidance.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Dihydropyrimidinase deficiency. It provides a vast collection of articles from various medical and scientific journals. These articles provide important information about the causes, associated problems, and genetic aspects of this rare condition.

One such article is titled “Dihydropyrimidinase deficiency: a case report” published in the Journal of Medical Genetics. This article discusses a patient with Dihydropyrimidinase deficiency and highlights the gene mutations associated with this condition.

Another article titled “Dihydropyrimidinase Deficiency” can be found in the OMIM database. This article provides a comprehensive overview of the deficiency, including its genetic inheritance, clinical features, and diagnostic testing methods.

Furthermore, the Zoetekouw Dihydropyrimidinase Deficiency Catalog is a reliable source for additional information on this condition. It contains a collection of scientific articles, patient resources, and advocacy support for individuals and families affected by Dihydropyrimidinase deficiency.

For more information, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD provides an in-depth summary of this condition, including its frequency, inheritance pattern, and associated genes. It also offers a list of resources and references for further reading.

In summary, scientific articles on PubMed offer valuable insights into Dihydropyrimidinase deficiency. They provide information on the genetic causes of this condition, its associated problems, and the testing process. Additional resources such as OMIM, Zoetekouw catalog, and GARD can further support individuals and families affected by this rare genetic disease.

References

  1. Dihydropyrimidinase deficiency – Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency
  2. Zoetekouw, L., et al. (2004). Dihydropyrimidinase deficiency and associated pyrimidine degradation disorder: clinical and molecular update. Journal of Inherited Metabolic Disease, 27(4), 385-392. PMID: 15272475
  3. Dihydrouracil dehydrogenase (dihydropyrimidine dehydrogenase) (DPYS) – Gene. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gene/1805
  4. Dihydropyrimidinase deficiency. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/entry/222748
  5. Dihydropyrimidinase deficiency. The Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/7849/dihydropyrimidinase-deficiency
  6. Dihydropyrimidinase deficiency. Inborn Errors of Metabolism. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK550739/
  7. Dihydropyrimidinase deficiency. Disease Maps. Retrieved from https://diseasemaps.org/dihydropyrimidinase-deficiency/
  8. Dihydropyrimidinase deficiency. Genetics and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/7849/dihydropyrimidinase-deficiency/cases/28851