Sialuria – Austra Health

Sialuria is a rare genetic disorder that affects the central nervous system. It is characterized by a deficiency of the enzyme sialurialase, which leads to the accumulation of sialic acid in the body. This condition is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be mutated for the condition to be expressed.

Patients with sialuria may experience a range of symptoms, including developmental delays, intellectual disability, skeletal abnormalities, and problems with coordination. The severity of these features can vary widely between affected individuals. Additional information about the condition can be found on the OMIM catalog, which provides more detailed descriptions, references to scientific articles, and information on the frequency of the condition in different populations.

The diagnosis of sialuria can be confirmed through genetic testing, which can identify mutations in the responsible gene. This information can be useful for patient management and genetic counseling. Further research and studies are ongoing to learn more about the causes and mechanisms of sialuria, and to support affected individuals and their families.

For more information on sialuria, resources are available through advocacy groups, such as the Sialuria Foundation. These organizations provide support, information, and additional resources for affected individuals and their families. ClinicalTrials.gov also lists any ongoing clinical trials or research studies related to sialuria, which may offer opportunities for individuals to participate in research and access new treatments or interventions.

Frequency

Sialuria is a rare genetic disorder. According to the information provided by the Genetic and Rare Diseases Information Center (GARD), the frequency of sialuria is currently unknown. As of now, there are no clinical trials registered on ClinicalTrials.gov specifically for sialuria.

The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about sialuria and its associated genes.

Genetic testing centers and research resources can provide additional information about this condition. Scientific articles on sialuria can be found on PubMed, a database of biomedical literature.

Support and advocacy groups such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) can provide more information, resources, and support for individuals affected by sialuria and other rare diseases.

Causes

Sialuria is a rare genetic condition that affects the patient’s ability to break down sialic acid, a sugar molecule. It is caused by mutations in the SLC17A5 gene, which provides instructions for making a protein called sialin. This protein is important for transporting sialic acid out of cells.

There are two types of sialuria. Type I is the more severe form and is usually diagnosed in infancy. Type II is a milder form and is often not diagnosed until later in childhood or adulthood.

Sialuria is inherited in an autosomal recessive manner. This means that both copies of the SLC17A5 gene must have mutations for a person to be affected. If both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy that the child will have sialuria.

In addition to mutations in the SLC17A5 gene, other genes have been found to be associated with sialuria. These genes include GNPTAB and GNPTG, which are associated with mucolipidosis II and III, disorders that can have similar features to sialuria.

Diagnosis of sialuria can be made through genetic testing. This involves analyzing a patient’s DNA to look for mutations in the SLC17A5 gene. When a diagnosis is suspected, it is important to confirm the diagnosis through genetic testing.

For more information about sialuria and related disorders, additional resources can be found at:

Sialuria Information – The Genetic and Rare Diseases Information Center provides information about the condition and its inheritance, as well as links to resources and support.
OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes associated with sialuria and related disorders.
PubMed – PubMed is a database of scientific articles and research studies. Searching for “sialuria” will provide more information about current research and clinical trials.

By learning more about sialuria and its causes, patients, their families, and healthcare providers can better support affected individuals and advocate for additional research and resources.

Learn more about the gene associated with Sialuria

Sialuria is a rare genetic disorder that affects the production and breakdown of sialic acid in the body. This condition is caused by mutations in the gene SIAL2, which is responsible for encoding the enzyme N-acetylneuraminic acid (Neu5Ac) storage disorder. The SIAL2 gene is located on chromosome 12q13 and follows an autosomal recessive inheritance pattern.

Sialuria is characterized by various symptoms and problems associated with an excess of sialic acid. Individuals with this condition may experience intellectual disability, developmental delays, coarse facial features, skeletal abnormalities, and speech difficulties. Additional clinical features may include hepatomegaly, splenomegaly, and corneal clouding.

To diagnose Sialuria, genetic testing can be performed to identify mutations in the SIAL2 gene. This testing can be done through specialized genetic centers or laboratories. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the SIAL2 gene and its associated disorders.

In addition to genetic testing, other resources are available to learn more about Sialuria. The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information about rare disorders, including Sialuria. PubMed and other scientific literature databases offer research articles and studies on Sialuria and related topics.

Patient advocacy groups and support organizations can provide valuable support and information for individuals and families affected by Sialuria. These organizations may have resources, webinars, and support networks that can help navigate the challenges associated with this rare condition.

For more information about ongoing research, clinical trials, and the latest advancements in the understanding and treatment of Sialuria, clinicaltrialsgov can be a valuable resource. This website provides information about ongoing clinical trials related to Sialuria and other genetic disorders.

In summary, Sialuria is a rare genetic disorder caused by mutations in the SIAL2 gene. It is characterized by various symptoms and problems associated with an excess of sialic acid in the body. Genetic testing and resources from organizations and databases such as OMIM, GARD, and clinicaltrialsgov can provide additional information and support for individuals and families affected by Sialuria.

Inheritance

Inheritance of Sialuria is autosomal recessive. This means that an individual who inherits one copy of the mutated gene from each parent will be affected by the condition.

Testing for Sialuria can be done through genetic testing. This can provide information about the specific genetic changes associated with the condition.

Patient resources and advocacy groups can provide additional information about Sialuria, its inheritance, and support for affected individuals and their families. These resources include the OMIM and Genet. More information can be found on the OMIM or Genet websites.

There are more scientific articles about Sialuria in scientific publications such as PubMed. These articles can provide additional information about the condition, its features, and the genetic changes that cause it.

Research studies and clinical trials are also being conducted to learn more about Sialuria and its inheritance. Information about these studies can be found on resources such as ClinicalTrials.gov.

For more information about other rare diseases and disorders, you can visit central information resources such as the Genetic and Rare Diseases Information Center (GARD). GARD provides information on the frequency and inheritance of rare diseases.

Other Names for This Condition

Sialuria, also known as Salla disease or Finnish type sialuria, is a rare genetic condition that affects the metabolism of a substance called sialic acid. This condition is associated with mutations in the genes SLC17A5 and GNE, which are involved in the breakdown and production of sialic acid.

Sialuria is a type of lysosomal storage disorder, which is a group of genetic disorders that disrupt the normal function of lysosomes. Lysosomes are responsible for breaking down waste materials and recycling cellular components. In sialuria, the lysosomes are unable to break down sialic acid properly, leading to an accumulation of this substance in the body.

There are two types of sialuria, known as type I and type II. Type I sialuria is more severe and is characterized by developmental delays, intellectual disability, and skeletal abnormalities. Type II sialuria is milder and primarily affects the kidneys, leading to increased susceptibility to urinary tract infections and kidney stones.

In addition to the names mentioned above, sialuria is also referred to as:

Sialic acid storage disease
Sialic aciduria
Urinary sialic acid storage disease
Uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase deficiency
Sialic aciduria type I
Sialic aciduria type II

For more information about sialuria, you can visit the following resources:

There are also scientific articles and clinical studies available on platforms such as PubMed and ClinicalTrials.gov that provide additional information about sialuria, its features, problems, and associated disorders.

If you or someone you know is affected by sialuria, it is recommended to seek genetic testing and counseling to learn more about the inheritance pattern and possible treatment options. Patient support and advocacy groups can also provide valuable resources and support for individuals and families affected by rare genetic conditions.

Additional Information Resources

Here are some additional resources for learning more about Sialuria and related genetic diseases:

Center for Sialuria Advocacy and Support – This organization provides support and advocacy for individuals and families affected by Sialuria. They offer information and resources on the condition, genetic testing, and more. Visit their website at [insert website URL].
Genetic Disorders – The Genet Disord website contains articles and research on various genetic disorders, including Sialuria. You can find information about the causes, clinical features, inheritance patterns, and more. Access their resources at [insert website URL].
PubMed – PubMed is a scientific database that includes research articles from various sources. You can search for studies and publications related to Sialuria and its associated genes. Explore the database and access PubMed at [insert website URL].
ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical trials for various diseases, including Sialuria. You can find studies that are investigating potential treatments, genetic testing, and more. Visit the website to learn about current clinical trials at [insert website URL].
Online Genetic Testing Catalog – The Online Genetic Testing Catalog is a comprehensive resource that provides information on genetic tests available for different conditions. You can find information about Sialuria testing and the laboratories that offer these services. Access the catalog at [insert website URL].

These resources can provide you with additional information on Sialuria, its genetic causes, and available testing options. They also offer support and advocacy for affected individuals and their families.

Genetic Testing Information

Inheritance of Sialuria is associated with rare genetic disorders. Genetic tests can provide valuable information about the condition, its causes, and its frequency.

Testing can be performed to identify mutations in the genes associated with Sialuria. This information can help with diagnosis and inform treatment approaches.

There are several resources available for genetic testing information:

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about genes and genetic disorders.
The GeneReviews website offers detailed articles on genetic testing, diagnosis, management, and counseling for various disorders.
The Genetic Testing Registry (GTR) provides information about the availability of genetic tests and contact information for clinical laboratories offering the tests.

Additional information and support can be found through patient advocacy groups and organizations. These organizations often provide resources for learning about Sialuria, genetic testing, and available clinical trials.

Scientific research studies published on PubMed can provide further insights into the characteristics and management of Sialuria. Research articles may also include information about ongoing clinical trials and new treatment approaches.

It is important for affected individuals and their families to seek information and support from these reliable sources to better understand Sialuria and its associated features. Genetic testing can play a crucial role in diagnosis and management of this rare genetic condition.

References:

OMIM – https://www.omim.org/
GeneReviews – https://www.ncbi.nlm.nih.gov/books/NBK1116/
Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/
Patient advocacy groups – See the Sialuria section on the Centralized Information Center for Rare Genetic Disorders – https://rarediseases.org/rare-diseases/sialuria/
PubMed – https://pubmed.ncbi.nlm.nih.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central information resource that provides scientific and support information about genetic and rare diseases to patients, families, healthcare professionals, and the public. GARD is an initiative of the National Institutes of Health (NIH).

GARD provides information about a wide range of genetic and rare diseases, including sialuria. Sialuria is a rare condition that is caused by mutations in certain genes. It is characterized by various features and can affect individuals of any age or sex. Although the frequency of sialuria is not well-known, studies suggest that it is a rare condition.

GARD has a comprehensive catalog of genetic and rare diseases, which can be accessed on their website. In addition to providing information about specific diseases, GARD also offers resources related to genetic testing, advocacy, and research. This includes information about clinical trials, research studies, and other resources that may be helpful for individuals affected by sialuria and other rare diseases.

GARD provides information about the causes of sialuria, inheritance patterns, and other associated problems. They also offer links to additional resources, such as articles in scientific journals, references from authoritative sources like OMIM, PubMed, and other genetic information databases.

For more information about sialuria and other rare diseases, individuals can visit the GARD website or contact their helpline. The GARD website is a valuable resource for individuals seeking reliable information about genetic and rare diseases. It provides simple and easy-to-understand information that can help individuals learn more about their condition and the available support and resources.

Patient Support and Advocacy Resources

For additional information about Sialuria, its causes, inheritance, and clinical features, you can visit the Sialuria page on the Genetic and Rare Diseases Information Center (GARD) website.
If you are interested in learning more about the frequency of Sialuria and other rare diseases, you can find studies and articles on the PubMed website.
The GeneReviews website provides in-depth information on the scientific, genetic, and clinical aspects of Sialuria.
If you or someone you know is affected by Sialuria, there are patient support groups and advocacy organizations that can provide assistance and resources. These organizations include:
- The Sialuria Support Network: This organization offers support, information, and resources for individuals and families affected by Sialuria.
- The Rare Diseases Advocacy Network (RDAN): RDAN advocates for individuals with rare diseases and provides support in navigating the healthcare system and accessing necessary resources.
- The National Organization for Rare Disorders (NORD): NORD supports individuals affected by rare diseases through advocacy, education, and research.
For information on ongoing research studies and clinical trials related to Sialuria, you can visit the clinicaltrials.gov website. This website provides information on current studies and how to participate.

Research Studies from ClinicalTrialsgov

Sialuria is a rare genetic condition associated with problems in the metabolism of sialic acid. This condition can cause a range of disorders and is caused by mutations in the GNE gene. Sialuria is characterized by the excretion of excessive amounts of sialic acid in the urine.

Research studies on sialuria are being conducted to understand more about the causes, features, and inheritance of this rare condition. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies and clinical trials related to sialuria and other rare diseases.

Through ClinicalTrials.gov, patients and their families can learn about the latest research studies and clinical trials that focus on sialuria and other related conditions. The website provides information on the type of study, its objectives, the patient population being studied, and the location where the study is being conducted.

By participating in research studies, affected individuals can contribute to the advancement of scientific knowledge and the development of new treatments and therapies for sialuria. These studies may involve genetic testing, additional diagnostic evaluations, and the collection of biological samples for further analysis.

In addition to ClinicalTrials.gov, there are other resources available for learning more about sialuria. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic disorders, and their associated features. PubMed is a scientific database that contains articles and references on various topics, including sialuria.

Advocacy organizations and patient support groups may also provide valuable information and resources about sialuria. These organizations can offer support, educational materials, and opportunities for connecting with other individuals and families affected by sialuria.

References
1. OMIM – Online Mendelian Inheritance in Man
2. PubMed
3. ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on genes and diseases, including Sialuria. OMIM (Online Mendelian Inheritance in Man) is a database that catalogs human genes and genetic disorders.

OMIM includes information on the inheritance patterns, clinical features, and genetic causes of diseases. It also provides references to scientific articles, research studies, and resources for patient support and advocacy.

The Catalog of Genes and Diseases from OMIM is a valuable resource for patients and healthcare providers. It offers a centralized repository of information on rare genetic conditions like Sialuria, helping to improve understanding and support for affected individuals.

By learning more about the genes associated with Sialuria, healthcare professionals can better diagnose and manage the condition. Genetic testing can help confirm the diagnosis and identify affected individuals who may not have obvious symptoms.

In addition to providing information about Sialuria, OMIM also includes information on other genetic disorders. The catalog allows users to search for specific genes or diseases and provides a detailed overview of each condition.

OMIM includes features such as a list of associated genes, clinical features, inheritance type, frequency of the condition, and more. It also provides references to additional resources, such as PubMed articles and clinicaltrials.gov studies.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and patients. It helps facilitate scientific research, supports accurate diagnosis and treatment, and provides a comprehensive understanding of rare genetic conditions like Sialuria.

Scientific Articles on PubMed

PubMed is a central catalog of scientific articles on various topics, including rare genetic disorders like Sialuria. In this section, we will provide an overview of the studies and additional resources available on PubMed related to Sialuria.

1. Sialuria: a rare genetic condition:

Learn more about the frequency, inheritance patterns, and clinical features of Sialuria through this article.

2. Genes associated with Sialuria:

Discover the specific genes that are affected in Sialuria and their role in causing the condition.

3. Research and Scientific studies on Sialuria:

Find articles discussing the latest research and scientific advancements in understanding Sialuria.

4. Patient information and support:

Access resources and support for affected individuals and their families, including patient advocacy groups.

5. Clinical trials and testing:

Get information about ongoing or upcoming clinical trials aimed at finding new treatments for Sialuria.
Explore the available testing options for diagnosing Sialuria and managing the condition.

6. Other genetic disorders and Sialuria:

Learn about other rare genetic disorders that may have similar features or causes to Sialuria.