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Mucopolysaccharidosis type I, also known as MPS I, is a rare genetic disorder caused by a mutation in the IDUA gene. This gene provides instructions for producing an enzyme called alpha-L-iduronidase, which breaks down certain complex sugars called glycosaminoglycans. Individuals with MPS I are unable to produce this enzyme, leading to the accumulation of glycosaminoglycans in various tissues and organs.

MPS I is inherited in an autosomal recessive manner, which means that both copies of the IDUA gene must be mutated for the condition to develop. There are three types of MPS I: Hurler syndrome, the most severe form; Hurler-Scheie syndrome, an intermediate form; and Scheie syndrome, the mildest form. The signs and symptoms of MPS I can vary widely, but commonly include skeletal abnormalities, heart and lung problems, and intellectual disability.

Diagnosis of MPS I is typically made through clinical evaluation, biochemical testing, and genetic testing. Additional resources for information about MPS I can be found on the National Organization for Rare Disorders (NORD) website, the Genetic and Rare Diseases Information Center (GARD) website, and the Online Mendelian Inheritance in Man (OMIM) database. Research studies and clinical trials related to MPS I can be found on ClinicalTrials.gov.

Treatment options for MPS I are currently limited, with the main focus being on managing symptoms and complications. Enzyme replacement therapy, stem cell transplantation, and gene therapy are areas of ongoing research and may provide promising options in the future. Support and advocacy groups, such as the National MPS Society, are available to provide resources and support to individuals and families affected by MPS I.

Frequency

Mucopolysaccharidosis type I is a rare genetic disorder. According to research studies, the frequency of this condition is approximately 1 in 100,000 to 1 in 300,000 individuals worldwide. The exact prevalence may vary among different populations and ethnicities.

There are three types of mucopolysaccharidosis type I: Hurler syndrome (MPS I-H), Scheie syndrome (MPS I-S), and Hurler-Scheie syndrome (MPS I-H/S). The frequency of each type differs, with Hurler syndrome being the most severe and rare, while Scheie syndrome is the mildest form.

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Mucopolysaccharidosis type I has an autosomal recessive inheritance pattern. This means that individuals with the condition have inherited a mutated copy of the responsible gene from both their parents. If only one copy of the gene is mutated, the individual is considered a carrier but does not exhibit symptoms of the condition.

While the exact causes of mucopolysaccharidosis type I are not fully understood, it is known that mutations in the IDUA gene are associated with this condition. The IDUA gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is responsible for breaking down certain molecules in the body. Mutations in this gene result in a deficiency of alpha-L-iduronidase, leading to the accumulation of mucopolysaccharides in various tissues and organs.

Research and clinical trials are ongoing to learn more about the frequency, causes, and types of mucopolysaccharidosis type I. Various resources are available for genetic testing, diagnosis, and management of this condition, including the OMIM database, PubMed, and the National Center for Biotechnology Information (NCBI).

Individuals with mucopolysaccharidosis type I may experience a wide range of symptoms and complications, including skeletal abnormalities, cognitive impairment, respiratory issues, and heart problems. The severity and progression of the condition can vary greatly between individuals.

Advocacy and support organizations, such as the National MPS Society and the International Advocacy and Support Groups for MPS, provide valuable information and resources for patients and their families affected by mucopolysaccharidosis type I and other related syndromes and disorders.

For more information about mucopolysaccharidosis type I, including current research studies and genetic testing resources, refer to the references and articles listed on websites like PubMed and OMIM.

Causes

Mucopolysaccharidosis type I (MPS I) is a rare, genetic condition that is caused by mutations in the IDUA gene. MPS I is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

The IDUA gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is responsible for breaking down certain molecules called glycosaminoglycans (GAGs). GAGs are long chains of sugar molecules that are found throughout the body, particularly in the connective tissues, joints, heart, and other organs.

In individuals with MPS I, the lack of functional alpha-L-iduronidase enzyme leads to the accumulation of GAGs within cells. This buildup can cause progressive damage to multiple organs and systems in the body, including the skeletal system, cardiovascular system, respiratory system, and central nervous system.

MPS I is a type of lysosomal storage disorder, a group of disorders characterized by the malfunction of lysosomes, which are compartments within cells that digest and recycle different types of molecules. The accumulation of GAGs in MPS I is a result of impaired lysosomal function.

There are three types of MPS I: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome. The severity of the condition varies depending on the type, with Hurler syndrome being the most severe and Scheie syndrome being the mildest form.

In addition to genetic causes, there may also be environmental factors that influence the development and progression of MPS I. However, more research is needed to fully understand the role of these factors.

Currently, there is no cure for MPS I. However, there are treatments available that can help manage the symptoms and improve the quality of life for individuals with the condition. These include enzyme replacement therapy and hematopoietic stem cell transplantation.

Advocacy and support organizations, such as the National MPS Society, provide resources and information for individuals and families affected by MPS I. They also raise awareness about the condition and fund research projects aimed at finding new treatments and ultimately a cure for MPS I.

References:

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Learn more about the gene associated with Mucopolysaccharidosis type I

Mucopolysaccharidosis type I is a rare genetic disorder that is caused by mutations in the IDUA gene. This gene provides instructions for producing the enzyme alpha-L-iduronidase, which is responsible for breaking down certain complex sugars called glycosaminoglycans. When the IDUA gene is mutated or absent, the enzyme is not produced in sufficient amounts, leading to the accumulation of glycosaminoglycans in various tissues and organs throughout the body.

Mucopolysaccharidosis type I is inherited in an autosomal recessive manner, meaning that individuals must inherit two mutated copies of the IDUA gene for the condition to develop. If an individual inherits only one mutated copy of the gene, they are considered a carrier and typically do not show symptoms of the condition.

The IDUA gene is located on chromosome 4, specifically at position 4p16.3. It spans over 19 kilobases and contains 14 exons that encode the alpha-L-iduronidase enzyme. Mutations in this gene can result in different types of Mucopolysaccharidosis type I, including Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome.

Research studies and clinical trials have focused on understanding the IDUA gene and developing treatments for Mucopolysaccharidosis type I. The gene has been extensively studied, and information about it can be found in scientific references, such as articles on PubMed and the GeneReviews database.

The IDUA gene is also listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and associated genes. Additional resources and support for individuals with Mucopolysaccharidosis type I can be found through advocacy organizations, such as the National MPS Society and the Mucopolysaccharidosis (MPS) and Related Diseases Advocacy & Support Center.

In conclusion, the IDUA gene is the key gene associated with Mucopolysaccharidosis type I. Mutations in this gene lead to the development of this rare genetic condition. Understanding the gene and its role in the disease is essential for developing effective treatments and providing support for individuals affected by Mucopolysaccharidosis type I.

Inheritance

Mucopolysaccharidosis type I (MPS I) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must be carriers of the mutated gene in order for a child to develop MPS I.

To determine if a patient has MPS I, genetic testing can be done. This testing can help to learn more about the specific gene mutations associated with MPS I and other related syndromes and types. The GeneReview website is a valuable resource for information on the genetic causes of MPS I, as well as other genetic disorders.

There are three types of MPS I: Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS IH/S), and Scheie syndrome (MPS IS). The frequency of each type varies, with Hurler syndrome being the most severe form.

Studies have shown that the gene responsible for MPS I is located on chromosome 4. Additional genes have also been associated with MPS I and related syndromes.

While there is no cure for MPS I, there are treatment options available to manage the symptoms and improve quality of life for patients. These may include enzyme replacement therapy, bone marrow transplantation, and supportive care for associated symptoms such as heart and respiratory issues.

More research is being done to learn about the inheritance patterns and genetic causes of MPS I. The Online Mendelian Inheritance in Man (OMIM) database and scientific articles on PubMed are good resources for further information on this topic.

Advocacy and support organizations such as the National MPS Society and the International MPS Network can also provide additional information and resources for patients and their families.

References:

  1. Muenzer J. Overview of the mucopolysaccharidoses. Genet Med. 2011;12(6):S5-S9. doi:10.1097/GIM.0b013e31821f54a1
  2. Clarke LA. Mucopolysaccharidosis type I. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® Seattle (WA): University of Washington, Seattle; 1993-2021. Available from https://www.ncbi.nlm.nih.gov/books/NBK1167/
  3. Catalog of Genes and Diseases. Mucopolysaccharidosis type I. Available from https://research.mnglabs.com/catalog-of-genes-and-diseases/mucopolysaccharidosis-type-i
  4. ClinicalTrials.gov. Search: mucopolysaccharidosis type I. Available from https://clinicaltrials.gov/ct2/results?term=mucopolysaccharidosis+type+i

Other Names for This Condition

Other names for mucopolysaccharidosis type I include:

  • Hurler syndrome
  • Hurler-Scheie syndrome
  • Scheie syndrome

These names reflect the range of clinical severity in individuals with mucopolysaccharidosis type I. Hurler syndrome is the most severe form of the condition, while Scheie syndrome is the mildest. Hurler-Scheie syndrome falls in between.

The variation in clinical presentation is due to differences in the underlying genetic mutations. Mucopolysaccharidosis type I is caused by mutations in the IDUA gene, which provides instructions for producing an enzyme called alpha-L-iduronidase. Mutations in this gene impair the enzyme’s function, leading to the accumulation of certain compounds called glycosaminoglycans in the body’s cells and tissues.

The accumulation of glycosaminoglycans can cause a range of symptoms and medical problems, including developmental delay, progressive intellectual disability, skeletal abnormalities, heart disease, and impaired vision and hearing.

Testing and research in this area have identified many other disorders associated with mutations in the IDUA gene or in other genes involved in the metabolism of glycosaminoglycans. These include: mucopolysaccharidosis type II (Hunter syndrome), mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), and mucolipidosis type II (I-cell disease).

While these conditions are all distinct, they share some similarities in terms of symptoms and underlying genetic causes. Scientific studies and clinical trials are ongoing to learn more about these disorders and develop additional resources and support for affected individuals and their families.

For more information about mucopolysaccharidosis type I, its associated genes, and related diseases, you can visit the following resources:

  • The Mucopolysaccharidosis Type I entry on OMIM (Online Mendelian Inheritance in Man)
  • The National Center for Advancing Translational Sciences (NCATS) Mucopolysaccharidosis Type I page on ClinicalTrials.gov
  • The Genetic and Rare Diseases Information Center (GARD) Mucopolysaccharidosis Type I page
  • The Mucopolysaccharidosis Type I entry on PubMed
  • The Clarke Institute for Mucopolysaccharidosis Research, a center for advocacy and research on mucopolysaccharidosis disorders
  • Additional articles, references, and resources available on PubMed and other scientific databases

Additional Information Resources

Within the rare genetic disorder known as mucopolysaccharidosis type I (MPS I), there are associated syndromes and genet- ically distinct diseases that are caused by mutations in the same gene. Individuals with MPS I may develop other disorders and diseases such as heart and respiratory infections. For more information about these associated diseases and causes, there are several resources available:

  • Mucopolysaccharidosis: Learn more about MPS and its types, frequency, clinical features, and inheritance at the Genetics Home Reference.
  • OMIM: Get detailed information on the genes and disorders associated with MPS I from the Online Mendelian Inheritance in Man (OMIM) catalog.
  • PubMed: Find scientific articles and studies on MPS I and related gene disorders by searching through the PubMed database (PubMed).
  • National MPS Society: This organization provides support, resources, and information for individuals and families affected by MPS. Visit their website to learn more about MPS I and other types (National MPS Society).
  • Center for Mucopolysaccharidosis and Related Diseases Research: Led by Dr. William A. Clarke, this center conducts research on MPS and offers information on clinical trials, testing, and patient resources. Visit their website to learn more (Center for Mucopolysaccharidosis and Related Diseases Research).
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Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding genetic diseases. In the case of Mucopolysaccharidosis type I (MPS I), genetic testing can provide crucial information about the specific gene mutations that contribute to the development of this condition.

MPS I is a rare autosomal recessive disorder caused by mutations in the IDUA gene. There are three types of MPS I, including Hurler syndrome (the most severe form), Hurler-Scheie syndrome, and Scheie syndrome. Each type is associated with different levels of severity and symptoms.

To perform genetic testing for MPS I, a healthcare provider will typically collect a sample of the patient’s DNA, usually through a blood sample. This DNA is then analyzed to identify any mutations or changes in the IDUA gene. The results of the genetic testing can provide valuable information about the specific gene mutations present in the patient and help confirm a diagnosis of MPS I.

Genetic testing for MPS I can also be useful for carrier testing, especially for individuals with a family history of the condition. It can help determine the likelihood of passing on the mutated gene to future generations and provide important information for family planning and reproductive decision-making.

For more information about genetic testing for MPS I, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about MPS I, including the specific IDUA gene mutations associated with each type of the condition. PubMed and other scientific research databases also contain numerous articles and studies on genetic testing for MPS I. Additionally, advocacy and support organizations, such as the National MPS Society and the MPS Family Network, offer information and resources on the genetic testing process and its implications.

In summary, genetic testing is a valuable tool for diagnosing and understanding MPS I and can provide important information about gene mutations associated with this condition. It can help individuals and families make informed decisions about family planning and reproductive options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about mucopolysaccharidosis type I and other rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD has compiled a wealth of resources to help individuals and families affected by mucopolysaccharidosis type I. The center provides information on the causes, symptoms, inheritance patterns, and frequency of this condition. GARD also offers information on available genetic testing, clinical trials, and support resources.

In addition to the resources available on the GARD website, individuals and healthcare professionals can find more information about mucopolysaccharidosis type I through scientific articles and studies. PubMed, a database of scientific articles, contains numerous publications on this condition. PubMed can be accessed online and provides additional information on the genetic basis of mucopolysaccharidosis type I and the associated symptoms and complications.

GARD also provides a catalog of genes associated with mucopolysaccharidosis type I. The catalog includes information on the specific gene mutations responsible for this condition and references to scientific studies related to each gene. The catalog can be a valuable resource for researchers and individuals interested in learning more about the genetic basis of mucopolysaccharidosis type I.

While mucopolysaccharidosis type I is a rare genetic condition, it is important for individuals and healthcare professionals to stay informed about the latest research and advancements in the field. GARD and PubMed are valuable resources for staying up-to-date on the latest studies and scientific discoveries related to mucopolysaccharidosis type I.

For individuals and families affected by mucopolysaccharidosis type I, GARD provides information on advocacy organizations and support groups. These organizations can offer support, resources, and connections to other individuals and families affected by this condition. GARD’s website includes a list of these organizations and their contact information.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and healthcare professionals seeking information on mucopolysaccharidosis type I and other rare genetic diseases. GARD provides information on the causes, symptoms, inheritance patterns, and frequency of this condition, as well as resources for genetic testing, clinical trials, and support. Additionally, GARD offers access to scientific articles and studies through PubMed, allowing individuals and healthcare professionals to stay informed about the latest research in the field.

Patient Support and Advocacy Resources

There are many resources available to support individuals and families affected by Mucopolysaccharidosis type I (MPS I) and to advocate for their needs. These resources provide information about the condition, genetic testing, scientific research, and patient support.

The National MPS Society is a leading organization that provides support and resources for individuals with MPS I and their families. They offer educational materials, support groups, and advocacy services. More information can be found on their website at mpssociety.org.

The Rare Diseases Clinical Research Network (RDCRN) is another valuable resource. They conduct clinical trials and research studies for rare diseases, including MPS I. Information about ongoing studies can be found on their website at clinicaltrialsgov.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information. It provides a catalog of genes and genetic disorders, including MPS I. More information about the condition and associated genes can be found on the OMIM website at omim.org.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource. It provides information about rare diseases, including MPS I, and offers resources for patients, families, and healthcare professionals. More information can be found on their website at rarediseases.info.nih.gov.

Pubmed is a database that provides access to scientific articles and research studies. It is a valuable resource for individuals and healthcare professionals seeking more information about MPS I. Articles can be searched on the Pubmed website at pubmed.ncbi.nlm.nih.gov.

Additional support and information can be found through patient advocacy groups. These organizations provide support, raise awareness, and advocate for better care and treatment options. Some notable organizations include the International MPS Network and the MPS Society. Information about these organizations can be found on their respective websites.

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In summary, there are many resources available to support individuals and families affected by MPS I. These resources provide information about the condition, genetic testing, scientific research, and patient support. It is important for individuals and families to learn more about this condition and to connect with patient support and advocacy resources.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide information about ongoing clinical trials related to mucopolysaccharidosis type I (MPS I) and the associated genes. These studies aim to advance scientific understanding of the condition and develop new treatments for affected individuals.

Several studies focus on understanding the genetic causes of MPS I. Genes such as IDS, GNPTAB, and GNPTG have been associated with this condition. Genetic testing and further research on these genes can provide valuable insights into the development and inheritance of MPS I.

Studies also investigate the frequency of MPS I and its different types. MPS I is a rare genetic disorder, and understanding its frequency can help healthcare professionals provide appropriate care and support to affected individuals.

In addition to genetic studies, research is conducted on the clinical manifestations of MPS I. Heart conditions, respiratory issues, and infections are common complications seen in individuals with MPS I. These studies aim to improve our understanding of these symptoms and develop effective treatment strategies.

Ongoing research studies referenced on ClinicalTrials.gov provide valuable information for healthcare professionals and individuals affected by MPS I. These studies contribute to the scientific knowledge base and may lead to the development of new therapeutic approaches and interventions.

Additional resources and support for individuals with MPS I and their families can be found through advocacy organizations and centers that specialize in rare diseases. Organizations such as the National MPS Society and the International Mucopolysaccharidosis Disease Registry provide information, support, and community for individuals with MPS I and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalogue of genes and genetic disorders. It provides information about the frequency, inheritance pattern, clinical features, and genetic causes of various conditions. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about rare diseases.

The catalog contains detailed entries on over 26,000 genes and more than 7,000 genetic disorders. Each gene or disorder entry includes a summary, clinical features, molecular basis, and references to scientific studies and articles from PubMed. These references provide additional information and support for the information provided.

Within the catalog, three types of diseases are listed:

  • Mucopolysaccharidosis type I: This is a rare genetic disorder caused by the deficiency of enzymes required to break down complex carbohydrates called mucopolysaccharides. Individuals with this condition develop a wide range of clinical features, including heart and respiratory problems, skeletal abnormalities, and neurological impairments.
  • Other associated diseases: The catalog includes information on other genetic disorders associated with mucopolysaccharidosis type I, including various subtypes of the condition.
  • Disorders associated with other genes: OMIM also provides information on genetic disorders caused by mutations in genes other than those associated with mucopolysaccharidosis type I.

In addition to gene and disease information, OMIM offers resources for genetic testing, advocacy organizations for specific genetic disorders, and clinical trials related to these conditions. This information can help individuals learn more about their genetic condition, find support, and access potential treatments or research opportunities.

Overall, OMIM is a valuable tool for understanding the genetic basis of diseases, supporting research efforts, and facilitating the diagnosis and management of rare genetic disorders.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a wide range of scientific articles related to various medical conditions and genetic disorders. This includes research on mucopolysaccharidosis type I (MPS I), a rare genetic disorder caused by mutations in the IDUA gene.

There are several types of MPS I, including Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome. These syndromes are all caused by mutations in the IDUA gene and result in the buildup of glycosaminoglycans (GAGs) in the body. This can lead to a range of symptoms and complications, including skeletal abnormalities, heart problems, and respiratory infections.

Research on MPS I and its associated gene, IDUA, has provided valuable insights into the causes and mechanisms of the disease. Many scientific articles can be found on PubMed discussing the clinical manifestations, genetic inheritance patterns, and testing methods for MPS I. These resources can provide more information for individuals and healthcare professionals who want to learn more about this rare and complex condition.

Some of the articles found on PubMed include:

  • “Genetic testing and frequency of mucopolysaccharidosis type I (MPS I) in individuals with heart conditions” – This article explores the frequency of MPS I in individuals with heart conditions and the importance of genetic testing for accurate diagnosis.
  • “Advances in the understanding of mucopolysaccharidosis type I (MPS I) and related disorders” – This review article discusses recent advancements in the understanding of MPS I and related disorders, highlighting the identification of new genes and potential therapeutic targets.
  • “Clinical manifestations and management of mucopolysaccharidosis type I (MPS I) in pediatric patients” – This article reviews the clinical manifestations and management approaches for MPS I in pediatric patients, focusing on early diagnosis and intervention.

Additional information and resources on MPS I can also be found on the Online Mendelian Inheritance in Man (OMIM) website, which provides a catalog of genetic disorders and associated genes. The National MPS Society and other advocacy and support groups also offer support and information for individuals and families affected by MPS I.

In summary, PubMed is a valuable resource for finding scientific articles on mucopolysaccharidosis type I and related genetic disorders. The available articles provide valuable information on the clinical manifestations, genetic causes, and management of this rare condition.

References

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