Ornithine transcarbamylase deficiency (OTCD) is a rare genetic condition associated with a deficiency of the enzyme ornithine transcarbamylase. This enzyme plays a crucial role in the urea cycle, which is responsible for removing ammonia from the body. OTCD is an X-linked disorder, meaning it primarily affects males. However, it can also manifest in females due to X-inactivation.

OTCD is caused by mutations in the OTC gene, which provides instructions for making the ornithine transcarbamylase enzyme. The frequency of OTCD is estimated to be around 1 in 80,000 individuals, making it one of the more common urea cycle disorders.

This article provides information about the causes, inheritance pattern, clinical manifestations, and available treatment options for OTCD. It also lists additional resources where patients and their families can learn more, including advocacy groups, scientific research centers, and clinical trial databases.

Frequency

The frequency of ornithine transcarbamylase (OTC) deficiency is estimated to be approximately 1 in 80,000 live births.

This condition usually affects males, as it is inherited in an X-linked recessive manner. However, there have been rare cases of females being affected as well.

This deficiency can cause damage to the liver, brain, and other organs due to the accumulation of ammonia in the body. If left untreated, it can lead to severe neurological damage and even death.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

The OTC gene is located on the X chromosome. In males, who have one X and one Y chromosome, a mutation in this gene can result in the disease. In females, who have two X chromosomes, the presence of a normal copy of the gene on one X chromosome can often compensate for the mutated copy on the other X chromosome. This phenomenon is known as X-inactivation.

Research on the inheritance and genetic causes of OTC deficiency is ongoing. Additional genes and factors may be involved in the development and progression of this condition.

For more information about ornithine transcarbamylase deficiency, you can visit the Urea Cycle Disorders Consortium website or the OMIM database. These resources provide support, free articles, clinical trials, and advocacy for individuals with OTC deficiency and other related disorders.

References:

  1. Learning About Ornithine Transcarbamylase Deficiency. (n.d.). Urea Cycle Disorders Consortium. Retrieved from https://clinicaltrials.gov/ct2/show/NCT01098788
  2. Ornithine transcarbamylase deficiency. (2013). GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK154378/

For more scientific articles on this topic, you can also search the PubMed database using the keywords “ornithine transcarbamylase deficiency”.

Causes

The causes of ornithine transcarbamylase deficiency (OTC deficiency) involve both genetic factors and enzyme dysfunction. OTC deficiency is an X-linked genetic disorder, caused by mutations in the OTC gene located on the X chromosome. The frequency of this disease is rare, with an estimated incidence of 1 in 80,000 live births.

Individuals with OTC deficiency have a deficiency in the enzyme ornithine transcarbamylase (OTC), which is a key enzyme in the urea cycle. The urea cycle is responsible for the detoxification of ammonia, a byproduct of protein metabolism. Without functional OTC enzyme, ammonia builds up in the blood, leading to hyperammonemia and potential brain damage.

The exact causes of OTC gene mutations are still being studied, but research indicates that they are random and not associated with any specific environmental or lifestyle factors. Additionally, OTC deficiency can also occur due to non-random X-inactivation in females, where the faulty OTC gene is preferentially expressed, leading to symptoms similar to those seen in males with the disease.

Genetic testing can confirm the diagnosis of OTC deficiency by identifying mutations in the OTC gene. Testing can be carried out prenatally or in newborn screening programs to detect the disease early and allow for prompt treatment.

For more information about OTC deficiency and other related disorders, the following resources can be useful:

  • The National Center for Biotechnology Information (NCBI) Genes & Diseases catalog – provides scientific articles and information about OTC deficiency.
  • The Online Mendelian Inheritance in Man (OMIM) database – a comprehensive resource for genetic diseases, including OTC deficiency.
  • ClinicalTrials.gov – a database of ongoing clinical trials related to OTC deficiency, offering opportunities for patients to participate in research.
  • Advocacy groups and support centers for OTC deficiency – provide additional resources and support for patients and families affected by the condition.

Overall, OTC deficiency is a rare genetic condition that can cause significant health problems if left untreated. Understanding the causes and underlying mechanisms of the disease can support further research and the development of effective treatments.

Learn more about the gene associated with Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked genetic condition that affects the urea cycle. This condition is caused by mutations in the OTC gene, also known as the ornithine transcarbamylase gene. The OTC gene provides instructions for making the enzyme ornithine transcarbamylase, which is involved in the breakdown of excess ammonia in the body.

OTCD is inherited in an X-linked recessive manner, which means that the condition primarily affects males. Females who carry a mutated OTC gene on one of their X chromosomes may have mild symptoms or be completely unaffected. The severity of the condition can vary among affected individuals, with some experiencing life-threatening episodes of high ammonia levels in the blood.

Research on the OTC gene and its association with OTCD is ongoing. The Gene Reviews database (supported by the NCBI) provides a comprehensive resource on the genetic basis of OTCD and other related disorders. Additionally, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer information on the latest studies and articles related to this condition.

Testing for mutations in the OTC gene can be done through genetic testing centers and laboratories. This can help confirm a diagnosis and guide treatment options for individuals suspected of having OTCD.

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There are currently no approved treatments for OTCD, but management involves minimizing ammonia accumulation and providing supportive care during episodes of metabolic decompensation. Clinical trials listed on clinicaltrials.gov may provide additional information on potential therapies and interventions being studied.

It is important for individuals with OTCD and their families to seek support and information from organizations and centers focused on rare genetic diseases. These resources can offer guidance, connect families with similar experiences, and provide updates on the latest research and treatment advancements.

Resources Website
Gene Reviews https://www.ncbi.nlm.nih.gov/books/NBK154377/
OMIM https://omim.org/
PubMed https://www.ncbi.nlm.nih.gov/pubmed/
ClinicalTrials.gov https://clinicaltrials.gov/
  • Learn more about Ornithine transcarbamylase deficiency and other genetic disorders from the Gene Reviews website.
  • Access information and resources about genetic conditions from OMIM.
  • Stay updated on the latest research studies related to OTCD through PubMed.
  • Explore clinical trials for potential therapies and interventions by visiting ClinicalTrials.gov.

Inheritance

Ornithine transcarbamylase deficiency (OTC deficiency) is an X-linked genetic condition. It is usually inherited in an X-linked recessive manner, which means that the gene causing the disease is located on the X chromosome.

The OTC gene is responsible for producing the ornithine transcarbamylase enzyme, which plays a crucial role in the urea cycle. This cycle helps in the breakdown and excretion of ammonia in the body. Mutations in the OTC gene cause a deficiency of the ornithine transcarbamylase enzyme, leading to the buildup of ammonia and potential damage to the brain and other organs.

Since the OTC gene is located on the X chromosome, the inheritance pattern of OTC deficiency is different for males and females. In males, who have only one X chromosome, a single copy of the mutated gene is enough to cause the disease. As a result, males with the mutated gene are usually affected by the condition.

On the other hand, females have two X chromosomes. If one X chromosome carries the mutated OTC gene, the other healthy X chromosome can compensate for the deficiency, and they may be asymptomatic carriers of the disease. However, in some cases, females can also be affected if the X chromosome carrying the healthy gene is randomly and inactivated in their cells, leaving only the mutated gene active.

It is important to note that the severity and symptoms of OTC deficiency can vary among affected individuals, regardless of gender. Some individuals may have mild forms of the disease, while others may experience severe symptoms.

The frequency of OTC deficiency in the general population is estimated to be about 1 in 40,000 to 1 in 80,000 live births. It is considered a rare condition.

Additional Information and Resources

For more information on inheritance patterns and the genetic basis of OTC deficiency, you can refer to the following resources:

  • OMIM: This article provides a detailed summary of the OTC deficiency gene and related diseases. You can find more information at OMIM.
  • PubMed: Scientific research articles on OTC deficiency can be found on PubMed, a database of biomedical literature. You can search for relevant articles at PubMed.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of OTC deficiency. This testing may be available through specialized genetic testing centers or laboratories.
  • Advocacy and Support: Organizations such as the Ornithine Transcarbamylase (OTC) Deficiency Family Support Group provide information, support, and resources for individuals and families affected by OTC deficiency. You can learn more at their website: OTC Support.
  • clinicaltrials.gov: You can find ongoing clinical research studies on OTC deficiency and related disorders at clinicaltrials.gov.

Other Names for This Condition

Ornithine transcarbamylase deficiency is also known by the following names:

  • X-linked deficiency of ornithine transcarbamylase
  • OTC deficiency
  • OTCD
  • X-linked ornithine transcarbamylase deficiency
  • Hyperammonemia, ornithine transcarbamylase deficiency
  • Transcarbamylase deficiency, ornithine

Additional Information Resources

  • Genetic Testing: Transcarbamylase deficiency can be diagnosed through genetic testing. Testing can determine if an individual carries a mutation in the gene responsible for the condition. Genetic testing is usually done to confirm the diagnosis in individuals with symptoms or to screen for the condition in family members of an affected individual.
  • Inheritance: Ornithine transcarbamylase deficiency is usually inherited in an X-linked recessive manner. This means that the gene mutation is located on the X chromosome. Carrier females have one copy of the mutated gene and one normal copy, while affected males have one mutated copy and one inactive X chromosome. Learn more about X-linked inheritance here.
  • Causes and Symptoms: Ornithine transcarbamylase deficiency is caused by mutations in the OTC gene. The condition affects the urea cycle, a process that removes ammonia from the body. Individuals with this deficiency may experience symptoms such as vomiting, lethargy, seizures, and coma. Learn more about the causes and symptoms of the disease here.
  • Rare Diseases Catalog: The Orphanet website provides a comprehensive catalog of rare diseases, including ornithine transcarbamylase deficiency. You can access the catalog here.
  • Scientific Articles: PubMed is a database of scientific articles and research publications. You can find articles and studies related to ornithine transcarbamylase deficiency by searching keywords such as “ornithine transcarbamylase deficiency” or “OTC deficiency” on the PubMed website.
  • Patient Support and Advocacy: The National Urea Cycle Disorders Foundation (NUCDF) provides support and resources for individuals and families affected by urea cycle disorders, including ornithine transcarbamylase deficiency. Learn more and access their resources here.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on genetic disorders, including ornithine transcarbamylase deficiency. You can learn more about the condition and its genetic basis on the OMIM website.
  • Clinical Trials: ClinicalTrials.gov is a database of clinical trials that are currently recruiting participants. You can search for clinical trials related to ornithine transcarbamylase deficiency on the ClinicalTrials.gov website.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Ornithine Transcarbamylase (OTC) deficiency. This genetic disorder is caused by mutations in the OTC gene. By testing for specific changes in this gene, healthcare professionals can learn more about the inheritance pattern and diagnose individuals with this condition.

Genetic testing can be done through a variety of methods. One common approach is to analyze the patient’s DNA for mutations in the OTC gene. This can be done using different techniques, such as sequencing or targeted mutation analysis. Testing can also be done using other genes involved in the urea cycle or by measuring the levels of ammonia in the blood.

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Genetic testing can help determine the specific genetic mutation causing OTC deficiency in an individual. It can also provide information about the frequency of the disease in a population, as well as its inheritance pattern. This information can be valuable for genetic counseling, as it can help individuals and their families understand the risks of passing the disease on to future generations.

There are several resources available to learn more about genetic testing for OTC deficiency. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of this condition. ClinicalTrials.gov is another useful resource for finding clinical trials and research studies related to OTC deficiency.

In addition, there are advocacy organizations and support groups that provide information and support for individuals and families affected by OTC deficiency. These organizations can often provide more information about genetic testing and can connect individuals with resources and other support services.

Further scientific research is ongoing to better understand the genetics and underlying causes of OTC deficiency. This research aims to improve diagnostic methods and develop more effective treatments for this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a central resource for individuals with genetic diseases and their families. Our goal is to provide comprehensive and up-to-date information about rare genetic disorders, including Ornithine transcarbamylase deficiency, and the genes, inheritance patterns, and causes associated with these conditions.

Ornithine transcarbamylase deficiency is a rare X-linked genetic disorder that affects the urea cycle. This condition is caused by mutations in the OTC gene, which provides instructions for making the ornithine transcarbamylase enzyme. Without this enzyme, ammonia, a toxic substance, builds up in the blood and can cause damage to the brain and other organs.

The OTC gene is located on the X chromosome, so this condition primarily affects males. Females may also be affected, but the severity of symptoms can vary due to X-inactivation, which randomly inactivates one X chromosome in each cell.

Signs and Symptoms

Individuals with Ornithine transcarbamylase deficiency may experience a variety of symptoms, including vomiting, lethargy, seizures, and coma. These symptoms typically appear within the first few days of life and can be life-threatening if not promptly treated. Symptoms may also occur later in childhood or adulthood, depending on the severity of the condition.

Diagnosis and Testing

Diagnosis of Ornithine transcarbamylase deficiency involves clinical evaluation, blood tests to measure ammonia levels, and genetic testing to identify mutations in the OTC gene. It is important to diagnose this condition as early as possible to prevent complications and manage ammonia levels in the body.

Treatment and Management

Treatment for Ornithine transcarbamylase deficiency typically involves a combination of medications, dietary modifications, and supportive care. Medications are used to remove excess ammonia from the body, while dietary changes help reduce the production of ammonia. In severe cases, dialysis or liver transplantation may be necessary to manage ammonia levels and prevent organ damage.

Research and Clinical Trials

Researchers are actively studying Ornithine transcarbamylase deficiency to better understand the underlying mechanisms and develop new treatments. Clinical trials may be available for individuals interested in participating in research studies. For more information about ongoing studies, visit ClinicalTrials.gov and search for “Ornithine transcarbamylase deficiency”.

Additional Resources

For more information about Ornithine transcarbamylase deficiency and other genetic disorders, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) catalog provides in-depth scientific articles about genetic conditions, including Ornithine transcarbamylase deficiency.
  • The National Organization for Rare Disorders (NORD) offers patient advocacy and support for individuals and families affected by rare diseases.
  • PubMed is a database of scientific research articles that can be searched for more information about Ornithine transcarbamylase deficiency.

Learn more about Ornithine transcarbamylase deficiency and other rare genetic diseases to better understand the condition and how it is diagnosed and managed. Genetic counseling and testing can provide more information about inheritance patterns and the likelihood of passing on genetic conditions to future generations.

Patient Support and Advocacy Resources

Ornithine transcarbamylase deficiency (OTC deficiency) is a rare genetic disorder caused by mutations in the OTC gene. This gene is located on the X chromosome and usually affects males. In females, the condition can occur if there is X-inactivation or a mutation in the other X chromosome.

OTC deficiency affects the urea cycle, a central pathway for ammonia detoxification in the body. The deficiency of the ornithine transcarbamylase enzyme leads to an accumulation of ammonia, causing damage to the brain and other organs.

If you or someone you know has been diagnosed with OTC deficiency, it is important to learn more about the condition and find support. The following resources can provide information, support, and advocacy for individuals and families affected by this disease:

1. Genetic and Rare Diseases Information Center (GARD)

Website: https://rarediseases.info.nih.gov/diseases/5750/ornithine-transcarbamylase-deficiency

GARD provides information about OTC deficiency, including its symptoms, causes, inheritance, and more. They also offer resources for genetic testing and research studies.

2. Online Mendelian Inheritance in Man (OMIM)

Website: https://www.omim.org/entry/311250

OMIM is a comprehensive catalog of human genes and genetic disorders. Their page on OTC deficiency provides detailed information about the condition, its inheritance, clinical features, and references to scientific articles.

3. Patient Advocacy and Support Organizations

Several patient advocacy organizations focus on supporting individuals and families affected by OTC deficiency. These organizations provide resources, support networks, and information about clinical trials:

  • Ornithine Transcarbamylase (OTC) Deficiency – https://otcd.org/
  • National Urea Cycle Disorders Foundation (NUCDF)https://www.nucdf.org/

4. ClinicalTrials.gov

Website: https://clinicaltrials.gov/

ClinicalTrials.gov provides information on ongoing clinical trials related to OTC deficiency. Patients and families can use this resource to find clinical studies that may be relevant to their condition.

Remember, it is essential to consult with healthcare professionals for proper diagnosis, treatment, and management of OTC deficiency. These resources can complement medical advice and provide additional support as you navigate this condition.

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Research Studies from ClinicalTrialsgov

Ornithine transcarbamylase deficiency is a rare X-linked genetic disorder that affects the urea cycle, causing an accumulation of ammonia in the blood. This condition usually causes significant damage to the central nervous system and can be life-threatening if not managed properly. Individuals with this deficiency may have a range of symptoms, including neurological problems, liver dysfunction, and high ammonia levels.

Research studies on Ornithine transcarbamylase deficiency are being conducted to learn more about the genes associated with the condition, the frequency of inheritance, and the mechanisms of damage caused by ammonia. ClinicalTrials.gov, a centralized repository for clinical research studies, provides valuable information and resources for patients, advocacy groups, and researchers.

From ClinicalTrials.gov, you can find additional articles and research studies related to Ornithine transcarbamylase deficiency. The platform offers a range of resources, including information on ongoing clinical trials, scientific articles, patient support resources, and more. These resources can help individuals affected by Ornithine transcarbamylase deficiency and other related disorders to stay informed about the latest advancements in testing, treatment options, and patient advocacy.

Some of the research studies listed on ClinicalTrials.gov include investigations into the genetic basis of Ornithine transcarbamylase deficiency, the role of X-inactivation in female carriers, and the development of new therapeutic approaches. These studies aim to improve our understanding of the condition and potentially find more effective treatments.

If you are interested in learning more about Ornithine transcarbamylase deficiency or participating in a research study, you can search ClinicalTrials.gov for more information. The platform allows you to search for studies by keywords, specific gene names, or even chromosomal locations. It is a valuable tool for both researchers and individuals affected by rare genetic diseases like Ornithine transcarbamylase deficiency.

References:

  • Nakamura K, et al. Ornithine transcarbamylase deficiency: establishment of a tiered laboratory diagnostic approach and literature review. Genet Med. 2019;
  • Ornithine Transcarbamylase Deficiency. OMIM. 2021;
  • ClinicalTrials.gov. Accessed [date]. Available at: [URL].

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information on genes and diseases. It serves as a central resource for scientific studies and supports research on various genetic disorders.

Ornithine transcarbamylase deficiency is one of the genes included in the OMIM catalog. This rare condition is caused by mutations in the OTC gene, which provides instructions for making the ornithine transcarbamylase enzyme.

Individuals with OTC deficiency have a defect in the ornithine transcarbamylase enzyme, leading to the buildup of ammonia and urea cycle disorders. The disease is X-linked, meaning it is more common in males. However, X-inactivation can randomly silence one of the X chromosomes in females, resulting in a wide range of symptoms and severity.

Testing for OTC deficiency typically involves measuring ammonia and urea levels in a patient’s blood and urine. If untreated, the condition can cause brain damage and other complications.

The OMIM catalog provides information on the OTC gene, including its frequency in the population and associated diseases. It also offers resources for genetic testing, advocacy groups, and additional research articles.

References to scientific studies and clinical trials related to OTC deficiency can be found on OMIM, PubMed, and ClinicalTrials.gov. These resources provide valuable information for further understanding the condition and potential treatment options.

Overall, the OMIM catalog serves as a valuable tool for researchers, clinicians, and individuals affected by genetic disorders, providing comprehensive information on genes, associated diseases, and available resources for genetic testing and research.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including rare genetic disorders like Ornithine Transcarbamylase Deficiency (OTCD). This X-linked condition affects the urea cycle, which is responsible for detoxifying ammonia in the body.

Patients with OTCD have a deficiency in the ornithine transcarbamylase enzyme, leading to the accumulation of ammonia and damage to the central nervous system. The condition is inherited in an X-linked manner, meaning that it primarily affects males, although females can be carriers.

PubMed is a free online catalog of scientific articles and provides a wealth of information on OTCD and other genetic disorders. It is an excellent resource for patients, healthcare professionals, and researchers looking to learn more about this condition.

Through PubMed, you can access articles that discuss the genes associated with OTCD, as well as additional information on the inheritance patterns, clinical presentations, and testing options for this rare disease.

Furthermore, PubMed provides access to scientific research and clinical trials investigating potential treatments and management strategies for OTCD. This can be valuable information for both patients and healthcare professionals.

In addition to PubMed, there are other resources available for support and advocacy in the OTCD community. These include patient support groups, advocacy organizations, and disease-specific centers that provide additional information and assistance to individuals affected by OTCD and their families.

To find relevant articles on PubMed, you can search using keywords such as “Ornithine Transcarbamylase Deficiency,” “OTCD,” or “hyperammonemia.” PubMed also provides links to related articles and references from other studies, allowing you to explore additional information on the topic.

Overall, PubMed is a valuable resource for finding scientific articles on Ornithine Transcarbamylase Deficiency and other rare genetic disorders. It offers a wealth of information and can help individuals learn more about their condition, stay up to date with the latest research, and find potential treatment options.

References