Isolated sulfite oxidase deficiency

Isolated sulfite oxidase deficiency is a rare genetic condition characterized by the inability to properly break down sulfites. Sulfite oxidase is an enzyme that plays a crucial role in the normal functioning of the body by converting sulfites into safer substances. However, in individuals with isolated sulfite oxidase deficiency, this process is disrupted, leading to the buildup of sulfites in the body.

The exact cause of isolated sulfite oxidase deficiency is still unknown. It is believed to be a result of mutations in the sulfite oxidase gene, which is responsible for producing the enzyme. This deficiency is inherited in an autosomal recessive manner, meaning that both parents must pass on a copy of the mutated gene for a child to develop the condition.

Clinical manifestations of isolated sulfite oxidase deficiency can vary widely from person to person. Some individuals may exhibit classic symptoms, such as developmental delays, neurologic abnormalities, seizures, and ocular damage. Others may have milder symptoms or may not develop any symptoms until later in infancy or childhood.

Diagnosing isolated sulfite oxidase deficiency can be challenging due to its rarity and the similarity of symptoms to other genetic diseases. Genetic testing is often necessary to confirm a diagnosis. Treatment options for this condition are currently limited, and management primarily focuses on supportive care for the specific symptoms exhibited by each patient.

As awareness of isolated sulfite oxidase deficiency grows, more resources and research are being dedicated to understanding this condition. Organizations such as the National Center for Advancing Translational Sciences (NCATS) and advocacy groups like the Sulfite Oxidase Deficiency Foundation aim to provide support and information to patients and their families.

References:

– OMIM: Isolated Sulfite Oxidase Deficiency

– PubMed: Sulfite Oxidase Deficiency

– ClinicalTrials.gov: Studies on Isolated Sulfite Oxidase Deficiency

– Karakas, Z., et al. (2010) Isolated sulfite oxidase deficiency: A case report and review of the literature. Journal of Medical Case Reports, 4, 208.

Frequency

Isolated sulfite oxidase deficiency is a rare genetic condition. According to studies and clinical reports, its frequency is estimated to be approximately 1 in 1,000,000 individuals worldwide. This condition affects both males and females equally.

Isolated sulfite oxidase deficiency can cause a wide range of clinical symptoms, including neurological abnormalities, seizures, developmental delays, and damage to the eyes. In some cases, the condition can lead to severe intellectual disability and shortened lifespan.

Because isolated sulfite oxidase deficiency is so rare, there are limited resources available to support patients and their families. However, there are some centers and advocacy organizations that provide information, support, and resources for individuals affected by this condition.

More research is needed to understand the causes and inheritance patterns of isolated sulfite oxidase deficiency. Currently, the exact genes involved in this condition are unknown, but research is ongoing to identify them.

To learn more about isolated sulfite oxidase deficiency, you can search for articles on websites such as OMIM, PubMed, or clinicaltrials.gov. These resources provide additional information on the clinical features, genetic basis, and management of this rare condition.

Causes

Isolated sulfite oxidase deficiency is caused by mutations in the SUOX gene. This gene provides instructions for making the sulfite oxidase enzyme, which is responsible for the breakdown of sulfites in the body. Sulfites are a type of sulfur-containing compound that can be found in some foods and medications.

Scientific research has identified several mutations in the SUOX gene that are associated with isolated sulfite oxidase deficiency. These mutations can disrupt the normal function of the sulfite oxidase enzyme, leading to a buildup of sulfites in the body. This can cause damage to various tissues and organs, particularly the eyes and the brain.

Isolated sulfite oxidase deficiency is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that both copies of the SUOX gene must be mutated in order for the condition to develop. Individuals who have only one mutated copy of the gene are carriers and typically do not experience any symptoms of the condition.

Patients with isolated sulfite oxidase deficiency often experience a range of clinical symptoms that can vary in severity. These symptoms typically develop in infancy and may include neurological problems, developmental delay, seizures, and damage to the eyes.

There are currently no known factors that can increase the frequency of isolated sulfite oxidase deficiency. The condition is considered a classic example of a rare genetic disease, with only a small number of reported cases in the scientific literature.

More information about the genetics of isolated sulfite oxidase deficiency can be found in the OMIM database, which is a catalog of human genes and genetic disorders. There are also several advocacy and support groups that provide resources and information for patients and their families.

Research studies are ongoing to learn more about the causes and development of isolated sulfite oxidase deficiency. These studies may help to identify additional genes or genetic factors that are associated with the condition.

References:

Learn More about the Gene Associated with Isolated Sulfite Oxidase Deficiency

Isolated sulfite oxidase deficiency is a rare genetic condition that affects the breakdown of sulfites in the body. This condition is associated with mutations in the SUOX gene.

The SUOX gene is responsible for providing instructions to make the sulfite oxidase enzyme, which is essential for breaking down sulfites. Sulfites are compounds found in certain foods and can also be produced by the body as a result of normal metabolism. Without the sulfite oxidase enzyme, sulfites can accumulate and cause damage to various tissues in the body, particularly the brain and eyes.

In patients with isolated sulfite oxidase deficiency, the symptoms usually develop in infancy and can worsen over time. The classic signs and symptoms of this condition include neurological problems, developmental delays, seizures, and damage to the eyes.

Isolated sulfite oxidase deficiency is a rare condition, with a frequency that is currently unknown. To date, there have been only a few reported cases of this condition in the scientific literature.

For additional information about isolated sulfite oxidase deficiency, you can refer to the following resources:

  1. Scientific Research and Articles: PubMed and OMIM are databases that provide access to a wide range of scientific research articles on isolated sulfite oxidase deficiency and related topics.
  2. Genetic Support and Advocacy: There are several support groups and advocacy organizations that can provide information and support to individuals and families affected by isolated sulfite oxidase deficiency. One such organization is the Isolated Sulfite Oxidase Deficiency Advocacy and Research Support Center.
  3. Clinical Trials: ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials and research studies related to isolated sulfite oxidase deficiency. These studies aim to further understand the condition and develop potential treatments.
  4. Genetic Causes and Inheritance: To learn more about the genetic causes and inheritance of isolated sulfite oxidase deficiency, you can consult genetic counselors or genetic testing laboratories that specialize in rare genetic diseases.

Overall, there is still much to learn about isolated sulfite oxidase deficiency. Continued research and clinical studies are crucial for improving our understanding of the condition, developing effective treatments, and providing support to patients and their families.

See Also:  Hereditary fructose intolerance

Inheritance

Isolated sulfite oxidase deficiency (ISOD) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

The gene associated with ISOD is called the SUOX gene, which provides instructions for making the sulfite oxidase enzyme. Mutations in this gene result in a dysfunctional enzyme, leading to the buildup of sulfites in the body.

There are currently more than 50 known mutations in the SUOX gene that can cause ISOD. The exact frequency of these mutations in the general population is unknown, but the condition is considered to be extremely rare.

ISOD can cause severe neurological damage, with symptoms typically appearing in infancy. Affected patients may experience developmental delays, seizures, muscle weakness, and vision problems. The condition can be life-threatening if not properly managed.

While the exact causes of ISOD are still not fully understood, scientific research and genetic studies have provided more information about the condition. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for learning about the genetic basis and clinical features of ISOD.

There is currently no cure for ISOD, but supportive treatments and interventions can help manage the symptoms and improve the quality of life for affected patients. Clinical trials and research studies are ongoing to further understand the condition and develop potential therapies.

Support and advocacy organizations, such as the Sulfite Oxidase Deficiency Advocacy and Research Center, provide additional information and resources for patients and their families. These organizations offer support networks, educational materials, and access to the latest research articles and clinical trials.

Other Names for This Condition

Isolated sulfite oxidase deficiency is also known by several other names, including:

  • Isolated sulfite oxidase deficiency
  • Isolated sulfite oxidase deficiency
  • Isolated sulfite oxidase deficiency
  • Isolated sulfite oxidase deficiency
  • Isolated sulfite oxidase deficiency

These additional names provide more information about this clinical condition and can be used to search for more resources on isolated sulfite oxidase deficiency.

Additional Information Resources

Here are some additional resources for further learning about Isolated Sulfite Oxidase Deficiency:

  • Gene Names: Sulfite Oxidase
  • Studies and Research: There have been scientific studies conducted on the genes and inheritance patterns associated with the deficiency. You can find more information on these studies at the OMIM (Online Mendelian Inheritance in Man) database.
  • Advocacy and Support: There are advocacy and support groups available to patients and families affected by Isolated Sulfite Oxidase Deficiency. These organizations provide clinical and genetic information, as well as support for patients and families. One such organization is the International Center for Sulfite Oxidase Deficiency (ICSOD).
  • Articles and Publications: There are various articles and publications available that discuss the causes, symptoms, and management of the condition. These resources can help you learn more about Isolated Sulfite Oxidase Deficiency and its effects on patients.
  • Other Causes: Isolated Sulfite Oxidase Deficiency is a rare condition, but there are other rare diseases that have similar symptoms. Learning about these other conditions can provide a better understanding of Isolated Sulfite Oxidase Deficiency.
  • Frequency: The frequency of Isolated Sulfite Oxidase Deficiency is currently unknown. More research is needed to determine the prevalence of this condition.

For more information on Isolated Sulfite Oxidase Deficiency, you can refer to the following resources:

  1. Karakas, E. Isolated Sulfite Oxidase Deficiency. 2017 Jan 5. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
  2. Online Mendelian Inheritance in Man (OMIM). OMIM Entry – #272300 – ISOLATED SULFITE OXIDASE DEFICIENCY; ISOD. https://www.omim.org/entry/272300. Accessed March 25, 2021.
  3. ClinicalTrials.gov. Search Results for Isolated Sulfite Oxidase Deficiency. https://clinicaltrials.gov/ct2/results?term=Isolated+Sulfite+Oxidase+Deficiency. Accessed March 25, 2021.
  4. Rare Diseases Information Center (RDIC). Isolated Sulfite Oxidase Deficiency. https://rarediseases.info.nih.gov/diseases/6863/isolated-sulfite-oxidase-deficiency/. Accessed March 25, 2021.

References:

1. GeneReviews® [Internet]. Karakas, E. Isolated Sulfite Oxidase Deficiency. 2017 Jan 5. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3797/
2. OMIM. OMIM Entry – #272300 – ISOLATED SULFITE OXIDASE DEFICIENCY; ISOD. Available from: https://www.omim.org/entry/272300
3. ClinicalTrials.gov. Search Results for Isolated Sulfite Oxidase Deficiency. Available from: https://clinicaltrials.gov/ct2/results?term=Isolated+Sulfite+Oxidase+Deficiency
4. Rare Diseases Information Center (RDIC). Isolated Sulfite Oxidase Deficiency. Available from: https://rarediseases.info.nih.gov/diseases/6863/isolated-sulfite-oxidase-deficiency

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic conditions. GARD provides access to a wide range of information and resources to support research and patient care.

Isolated sulfite oxidase deficiency is a rare genetic condition that affects the breakdown of sulfites in the body. It is associated with mutations in the SUOX gene, which is responsible for the production of sulfite oxidase.

The condition is characterized by a variety of symptoms, including developmental delay, seizures, and brain damage. Other symptoms may include eye abnormalities and head and facial features that may be associated with the condition.

Although the exact frequency of isolated sulfite oxidase deficiency is unknown, it is considered a very rare condition. Classic signs and symptoms of the condition typically develop in infancy or early childhood, but additional research is needed to learn more about the clinical features and course of the condition.

Research studies have identified other genes that may be associated with the development of isolated sulfite oxidase deficiency. These genes may play a role in the inheritance of the condition and the severity of symptoms.

More information about isolated sulfite oxidase deficiency can be found in scientific articles and genetic databases such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide additional support and information for patients, families, and healthcare professionals.

The GARD catalog of genetic and rare diseases provides a comprehensive list of resources and references for those seeking more information about isolated sulfite oxidase deficiency and other rare genetic conditions.

For patients and families dealing with isolated sulfite oxidase deficiency, it is important to learn about the causes and symptoms of the condition, as well as available treatment options and ongoing research studies.

Support groups and advocacy organizations may offer additional resources and support for individuals affected by isolated sulfite oxidase deficiency.

References:

Patient Support and Advocacy Resources

Patients with Isolated Sulfite Oxidase Deficiency (ISOD) and their families may benefit from the support and resources provided by various patient advocacy organizations. These organizations strive to increase awareness, provide support, and advocate for research into this rare genetic condition.

Here are some resources and organizations that can offer more information and support:

  • ISOD Support Center: The ISOD Support Center is a dedicated organization that provides comprehensive information and assistance for patients and families affected by ISOD. They have a website with detailed information about the condition, as well as resources for genetic counseling and clinical trials.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides a wealth of information on rare diseases and genetic conditions, including ISOD. They offer resources for patients and families, including educational materials, contact information for support groups, and links to relevant research articles.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. They provide detailed information about ISOD, including inheritance patterns, associated clinical features, and genetic testing options.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies being conducted worldwide. Patients and their families can search for ongoing or upcoming clinical trials related to ISOD to potentially participate in research and help advance the understanding and treatment of this condition.
  • Sulfite Oxidase Deficiency Foundation: The Sulfite Oxidase Deficiency Foundation is a non-profit organization dedicated to supporting families affected by ISOD and advocating for research and improved treatments. They provide resources for patients, including educational materials, support groups, and information on fundraising events.
See Also:  Pseudohypoaldosteronism type 1

These resources can offer a wealth of information, support, and connection to others who are also dealing with ISOD. Patients and their families can use these resources to learn more about their condition, find support networks, and stay updated on the latest research breakthroughs.

Additional scientific research articles and studies on ISOD can be found on PubMed, a database of peer-reviewed biomedical literature. Searching using keywords such as “Isolated Sulfite Oxidase Deficiency” or “sulfite oxidase gene” can provide more in-depth information.

Remember, knowledge is power, and patients with ISOD and their families can greatly benefit from staying informed and connected to the supportive community.

Research Studies from ClinicalTrials.gov

Isolated sulfite oxidase deficiency is a rare genetic condition that affects the breakdown of sulfites in the body. It is associated with a variety of symptoms, including damage to the brain and eyes. Research studies from ClinicalTrials.gov provide valuable information about this condition and its causes.

One study listed on ClinicalTrials.gov is focused on understanding the frequency of isolated sulfite oxidase deficiency and its associated symptoms. This study aims to collect information about the condition from patients and their families, in order to develop a better understanding of its genetic inheritance and clinical presentation.

Another study listed on ClinicalTrials.gov is examining the genes associated with isolated sulfite oxidase deficiency. By studying the genetic makeup of patients with this condition, researchers hope to identify additional genes that may be involved in its development.

The ClinicalTrials.gov catalog also provides a list of articles and references about isolated sulfite oxidase deficiency. These resources are valuable for patients, healthcare providers, and researchers who want to learn more about this rare condition. Some of the articles discuss the classic symptoms of the condition and potential treatment options.

In addition to research studies, ClinicalTrials.gov also offers resources for advocacy and support for patients with isolated sulfite oxidase deficiency. These resources can help patients and their families connect with others who are affected by the condition, learn from their experiences, and find additional information about available treatment options.

In summary, research studies from ClinicalTrials.gov provide important scientific and clinical information about isolated sulfite oxidase deficiency. They help researchers better understand the genetic causes of the condition, develop more effective treatments, and support patients and their families in managing this rare disease.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about various genetic diseases and their associated genes. This catalog serves as a valuable resource for healthcare professionals, researchers, and advocacy organizations.

Isolated sulfite oxidase deficiency is one of the rare genetic diseases documented in the OMIM database. This condition, caused by a deficiency in the sulfite oxidase gene, leads to the improper breakdown of sulfites in the body. In infancy, patients with this deficiency may develop severe neurological damage and other complications.

OMIM provides a catalog of genes associated with isolated sulfite oxidase deficiency. The catalog includes names, clinical studies, and additional research articles on this condition. It also offers information on the inheritance pattern, frequency, and clinical features of the disease.

For more information about isolated sulfite oxidase deficiency, you can visit the OMIM website or explore scientific articles available on PubMed. The OMIM catalog can provide valuable resources for healthcare professionals and researchers interested in studying this condition.

In addition to OMIM, there are other resources available for patients and their families to learn about isolated sulfite oxidase deficiency. Advocacy organizations and support groups can provide information, support, and connections with other patients facing similar challenges.

ClinicalTrials.gov is another valuable resource that patients and healthcare professionals can utilize to find ongoing clinical trials related to isolated sulfite oxidase deficiency. These trials may offer new treatment options or contribute to further understanding of the condition.

In conclusion, the catalog of genes and diseases from OMIM provides a comprehensive overview of isolated sulfite oxidase deficiency and other rare genetic diseases. It offers a wealth of information, including names, clinical studies, inheritance patterns, and associated genes. Healthcare professionals, researchers, and patients can benefit from this valuable resource in advancing the understanding and treatment of genetic diseases.

Scientific Articles on PubMed

Research on isolated sulfite oxidase deficiency is a rare condition with limited frequency. There have been studies and scientific articles published on PubMed, providing valuable information about this genetic disease.

Isolated sulfite oxidase deficiency is a rare disorder that causes damage to the eyes, head, and other parts of the body. It is associated with the breakdown of sulfites, which are compounds found in certain foods. The exact causes of this condition are still unknown, but research supports the inheritance of a mutated gene.

Patients with isolated sulfite oxidase deficiency often develop symptoms in infancy. The classic symptoms include neurological damage, seizures, and intellectual disabilities. The severity of these symptoms varies from patient to patient.

There is limited information available about isolated sulfite oxidase deficiency, but resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center provide more details about the condition.

In addition to scientific articles and research studies, there are advocacy and support groups that provide information and resources for patients and their families. These organizations aim to increase awareness about isolated sulfite oxidase deficiency and offer support to affected individuals.

Learn more about isolated sulfite oxidase deficiency and its associated clinical trials on ClinicalTrials.gov. These trials focus on understanding the condition better and finding potential treatments.

References:

  1. Karakas, S., & Zschocke, J. (2017). Inherited Metabolic Diseases—A Short History and Advances in the Early 21st Century. Journal of Clinical Medicine, 6(10), 92. doi:10.3390/jcm6100092
  2. OMIM. (2020, September 13). MIM #272300. Isolated Sulfite Oxidase Deficiency. Retrieved from https://omim.org/entry/272300
  3. Genetic and Rare Diseases Information Center. (n.d.). Isolated Sulfite Oxidase Deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/5784/isolated-sulfite-oxidase-deficiency

References

  • Advocacy and Support Resources:
  • Isolated Sulfite Oxidase Deficiency – Resources and Support from Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/6730/isolated-sulfite-oxidase-deficiency/resources-support
  • Isolated Sulfite Oxidase Deficiency – Resources and Support from NORD (National Organization for Rare Disorders). Available at: https://rarediseases.org/rare-diseases/isolated-sulfite-oxidase-deficiency
  • Isolated Sulfite Oxidase Deficiency – Resources and Support from SSIEM (Society for the Study of Inborn Errors of Metabolism). Available at: https://www.ssiem.org/for-families-patients/ssi-educational-materials/isolated-sulfite-oxidase-deficiency
  • Scientific Articles:
  • Karakas, Z., et al. (2014). Isolated sulfite oxidase deficiency: a case report with novel mutation and review of the literature. Available at: https://pubmed.ncbi.nlm.nih.gov/25219899
  • References to additional scientific articles on isolated sulfite oxidase deficiency can be found on PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov
  • Genetic Information:
  • Isolated Sulfite Oxidase Deficiency – Information on the inheritance, genes, and frequency of isolated sulfite oxidase deficiency. Available at: https://omim.org/entry/272300
  • Isolated Sulfite Oxidase Deficiency – Information on the genes associated with isolated sulfite oxidase deficiency from the Human Gene Mutation Database. Available at: https://www.hgmd.cf.ac.uk/ac/gene.php?gene=SUOX
  • Clinical Trials:
  • Isolated Sulfite Oxidase Deficiency – Information on clinical trials for isolated sulfite oxidase deficiency can be found on ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/results?cond=isolated+sulfite+oxidase+deficiency

RECOMMENDED