Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare genetic disorder that primarily affects males. It is caused by mutations in the IDS gene, which leads to a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down certain molecules in the body, and its deficiency results in the buildup of these molecules in the body’s tissues and organs.
Clinically, mucopolysaccharidosis type II is associated with a wide range of symptoms and can vary in severity. Common symptoms include facial changes, joint stiffness, enlarged liver and spleen, cardiovascular problems, and developmental delays. In some cases, individuals with this condition may also experience hearing loss and respiratory infections.
Diagnosis of mucopolysaccharidosis type II can be done through genetic testing. This involves analyzing the patient’s DNA to identify any changes or mutations in the IDS gene. Additional diagnostic tools, such as enzyme activity testing and urine analysis, may also be used to confirm the diagnosis and assess the severity of the condition.
Currently, there is no cure for mucopolysaccharidosis type II. Treatment options mainly focus on managing the symptoms and improving the quality of life for affected individuals. This may include enzyme replacement therapy, which involves regular intravenous infusions of the missing enzyme, as well as supportive care for associated health problems.
Research and scientific studies on mucopolysaccharidosis type II are ongoing. Organizations such as the National Institutes of Health (NIH) and the National Organization for Rare Disorders (NORD) provide resources, support, and research funding for this and other rare genetic diseases. Additionally, databases such as OMIM and PubMed offer a wealth of information and scientific articles on mucopolysaccharidosis type II and related disorders.
In conclusion, mucopolysaccharidosis type II is a rare genetic disorder that affects males and is caused by a deficiency in the enzyme iduronate-2-sulfatase. It is associated with a wide range of symptoms and can vary in severity. Genetic testing and other diagnostic tools are used to confirm the diagnosis. While there is no cure, treatment options aim to manage symptoms and improve the quality of life for affected individuals. Ongoing research and support from organizations and scientific communities continue to provide valuable insights into this condition.
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Frequency
Mucopolysaccharidosis type II is a rare genetic disorder that affects multiple tissues and organs in the body. It is one of a group of diseases known as mucopolysaccharidoses, which are characterized by the accumulation of complex sugar molecules called glycosaminoglycans in various tissues.
The frequency of mucopolysaccharidosis type II varies among different populations. It is estimated to occur in approximately 1 in every 34,000 to 160,000 live male births. This condition primarily affects males, as it is inherited in an X-linked recessive manner. Females can also be affected, but the signs and symptoms are usually milder in severity.
There are several types of mucopolysaccharidosis type II, including the mild form (Attenuated), the severe form (Classical), and the intermediate form. The signs and symptoms of the disease can range from mild to severe and can involve various systems in the body, such as the skeletal system, respiratory system, cardiovascular system, and central nervous system.
Patients with mucopolysaccharidosis type II may experience frequent infections, respiratory problems, hearing loss, vision problems, and heart valve abnormalities. Hernias and mild skeletal abnormalities, such as spinal curvature and joint stiffness, are also common features of this condition.
The condition is caused by alterations in the IDS gene, which provides instructions for producing the enzyme iduronate-2-sulfatase. The deficiency of this enzyme leads to the accumulation of glycosaminoglycans in the body.
To diagnose mucopolysaccharidosis type II, genetic testing can be performed to identify alterations in the IDS gene. This testing can be done prenatally or in individuals with signs and symptoms suggestive of the condition. Additional diagnostic tests may include enzyme activity assays and analysis of urinary glycosaminoglycans.
There are currently no cures for mucopolysaccharidosis type II, but there are treatment options available to manage the symptoms and slow down the progression of the disease. These may include enzyme replacement therapy, supportive care, and surgical interventions for specific issues, such as hernias or heart valve abnormalities.
Patients with mucopolysaccharidosis type II and their families can benefit from resources and support from advocacy organizations, such as the National MPS Society and local support groups. These organizations provide information, educational materials, and access to clinical trials and research studies.
References:
- OMIM: Mucopolysaccharidosis Type II
- ClinicalTrials.gov: Mucopolysaccharidosis Type II
- PubMed: Mucopolysaccharidosis Type II
- National MPS Society: National MPS Society
- Genetic and Rare Diseases Information Center: Mucopolysaccharidosis Type II
Causes
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). This enzyme is responsible for breaking down certain complex carbohydrates called glycosaminoglycans (GAGs) in the body.
The I2S gene is located on the X chromosome, and the mutation that causes Hunter syndrome is X-linked. This means that the condition primarily affects males, as they have only one copy of the X chromosome. Females, who have two copies of the X chromosome, are typically carriers of the mutated gene but may also manifest mild symptoms.
When the I2S gene is altered or missing, GAGs accumulate in the body’s cells and tissues. This buildup leads to progressive damage to various organs, including the heart, bones, joints, respiratory system, and central nervous system. The severity of symptoms and the age of onset can vary widely between individuals.
Hunter syndrome is classified as a rare disease. According to the National Organization for Rare Disorders (NORD), the frequency of this condition is estimated to be approximately 1 in 100,000 to 1 in 170,000 live births.
The genetic inheritance pattern of Hunter syndrome is called X-linked recessive. This means that the mutated gene is located on the X chromosome, and males with only one copy of the X chromosome are more likely to be affected. Females can be carriers of the mutated gene but are typically unaffected or have milder symptoms.
Research and scientific studies have provided valuable information on the causes and associated genetic factors of Hunter syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog and research articles indexed on PubMed offer additional resources for learning about this condition and its genetic causes. ClinicalTrials.gov is a useful platform for finding ongoing clinical trials and research studies related to Hunter syndrome.
Advocacy and support organizations such as the Hunter Syndrome Foundation and the National MPS Society provide resources, information, and support for patients and families affected by Hunter syndrome and other mucopolysaccharidosis types. They work to raise awareness, provide educational materials, and fund research for improved treatment options and potential cures.
Additional testing and diagnosis for Hunter syndrome may involve genetic testing to confirm the presence of the mutated I2S gene. Various clinical and laboratory tests, including enzyme activity assays and GAG level measurements, can aid in the diagnosis of this condition.
It is important to consult with healthcare professionals and experts in genetic disorders to learn more about the causes, testing, and management of Hunter syndrome.
Learn more about the gene associated with Mucopolysaccharidosis type II
Mucopolysaccharidosis type II is a rare genetic disorder that affects various tissues and organs in the body. It is caused by mutations in the IDS gene, which is responsible for the production of an enzyme called iduronate 2-sulfatase.
The IDS gene is located on the X chromosome and follows an X-linked inheritance pattern. This means that the disorder primarily affects males, who have one copy of the X chromosome. Females, who have two copies of the X chromosome, are typically carriers of the gene mutation and may experience milder symptoms.
Research on the IDS gene and its altered function in Mucopolysaccharidosis type II has provided valuable insights into the causes and mechanisms of the condition. Scientific studies have explored the frequency of different types of gene mutations and their impact on the severity of the disease.
For patients and their families, it is important to understand the genetic basis of Mucopolysaccharidosis type II. Genetic testing can help diagnose the condition and provide information about the specific gene mutations present in an individual.
A variety of resources are available for learning more about the IDS gene and its association with Mucopolysaccharidosis type II. Advocacy centers and support groups can provide additional information and connect individuals affected by the condition. Online catalogs such as OMIM (Online Mendelian Inheritance in Man) and scientific articles on PubMed can also be valuable sources of information.
Individuals interested in participating in research studies or clinical trials related to Mucopolysaccharidosis type II can find more information on websites such as ClinicalTrials.gov. These studies aim to further understanding of the condition and identify potential treatments or therapies.
In summary, the IDS gene plays a crucial role in the development of Mucopolysaccharidosis type II. Learning more about this gene and its genetic alterations can provide valuable insights into the causes, inheritance, and clinical management of this rare condition.
Inheritance
The inheritance pattern of Mucopolysaccharidosis type II (MPS II) is X-linked recessive, meaning that the mutated gene responsible for the condition is located on the X chromosome. Since males have only one X chromosome, they are more commonly affected by MPS II than females. However, in rare cases, females can also be affected if they inherit two copies of the altered gene.
In affected individuals, the gene mutation leads to a deficiency or absence of the enzyme iduronate 2-sulfatase, resulting in an accumulation of certain substances called glycosaminoglycans in various tissues of the body. These substances are important for the normal development and function of many organs and tissues.
The gene associated with MPS II is called IDS (iduronate 2-sulfatase). Mutations in the IDS gene can disrupt the production or function of the iduronate 2-sulfatase enzyme, leading to the signs and symptoms of the condition.
There are different types of mutations in the IDS gene that can cause MPS II. These mutations can vary in severity, with some leading to a milder form of the condition and others causing more severe symptoms.
Learn more about MPS II inheritance and associated genes through genetic resources such as OMIM, PubMed, and the Genetic Testing Registry: OMIM, PubMed, clinicaltrialsgov.
Genetic testing can help confirm the diagnosis of MPS II in individuals with clinical signs and symptoms. Testing can also be used for carrier testing in family members of affected individuals or for prenatal testing in families with a known familial mutation.
In addition to the IDS gene, there are other genes associated with MPS II-like disorders, including IDSI, IDSI-RI, and others. Research studies continue to explore the genetic causes and underlying mechanisms of these rare genetic disorders.
Patient support and advocacy organizations provide valuable information and resources for individuals and families affected by MPS II and related disorders. They offer support, educational materials, and help in finding clinical trial opportunities. Some examples of these organizations include the National MPS Society and the International MPS Network.
For more information about the inheritance and genetic causes of MPS II and related disorders, refer to the following references and resources:
- National MPS Society: mpssociety.org
- International MPS Network: impsn.org
- Genetic Testing Registry: gtr.ncbi.nlm.nih.gov
- OMIM Catalog of Human Genes and Genetic Disorders: omim.org
Further scientific research and clinical studies are ongoing to better understand the inheritance, genetic causes, and potential treatment options for MPS II and related diseases.
Other Names for This Condition
- Mucopolysaccharidosis type II
- MPS II
- Hunter syndrome
- MPS2
- MPS II, severe form
- MPS II, attenuated form
- Iduronate 2-sulfatase deficiency
- Hunter disease, severe and attenuated forms
- Mucopolysaccharidosis type II, severe and attenuated forms
Additional Information Resources
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Genetic Testing: Genetic testing for Mucopolysaccharidosis type II can be conducted to confirm the diagnosis. This testing looks for changes in the IDS gene associated with the condition. For more information on genetic testing, visit the Genetic Testing page on the Genetics Home Reference website.
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Clinical Trials: ClinicalTrials.gov provides a comprehensive listing of ongoing clinical trials related to Mucopolysaccharidosis type II. You can find more information about these trials, including their objectives, eligibility criteria, and locations, on the ClinicalTrials.gov website.
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Support Groups and Advocacy Organizations: There are several support groups and advocacy organizations that provide information, resources, and support for individuals with Mucopolysaccharidosis type II and their families. Some notable organizations include the National MPS Society and the Aidan Jack Seeger Foundation. These organizations can help connect you with others who are affected by this condition and provide valuable resources.
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Research and Studies: Stay updated on the latest research and studies related to Mucopolysaccharidosis type II. PubMed is a comprehensive database where you can find scientific articles, case studies, and research papers on this condition. Visit the PubMed website for more information.
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Additional Resources: Learn more about Mucopolysaccharidosis type II and other rare genetic disorders by exploring various online resources. The Online Mendelian Inheritance in Man (OMIM) catalog is a reputable source that provides detailed information on the genetic causes, inheritance patterns, clinical features, and more. Visit the OMIM website to access the catalog entry for Mucopolysaccharidosis type II.
Genetic Testing Information
Mucopolysaccharidosis type II (MPS II) is a rare genetic disorder that primarily affects males. It is also known as Hunter syndrome. MPS II is caused by alterations in the IDS gene, which is located on the X chromosome. This means that the condition follows an X-linked inheritance pattern.
To diagnose MPS II, genetic testing is usually performed. This testing involves analyzing the IDS gene to identify any alterations or mutations. The frequency of these alterations varies among populations, but they are generally rare.
Genetic testing for MPS II can provide important information about the diagnosis and management of the condition. It can help confirm a suspected diagnosis, determine the specific type of MPS II, and provide information about the severity of the condition. Genetic testing can also be used to assess the risk of a couple having a child with MPS II.
Individuals with MPS II may experience a range of symptoms and complications. These can affect different tissues and organs in the body, including the heart, bones, joints, and respiratory system. Common symptoms include developmental delays, skeletal abnormalities, heart problems, and frequent infections.
There are different types of MPS II, with varying degrees of severity. The mildest form is called attenuated MPS II, while the most severe form is known as severe MPS II. The type of MPS II a person has is determined by the specific alterations in the IDS gene.
Genetic testing for MPS II can be performed in specialized laboratories. It is important to consult with a healthcare professional or genetic counselor for more information about the testing process and the specific laboratory that performs the testing. They can also provide additional guidance and support.
For more information about the genetic causes and inheritance of MPS II, and to find additional resources and support, the following references may be helpful:
- The OMIM catalog of genetic disorders (Online Mendelian Inheritance in Man)
- The MPS II entry on the OMIM catalog
- The PubMed database for scientific articles about MPS II and related disorders
- The Center for Genetic Testing and Research at [insert name of center]
- The Genetic and Rare Diseases Information Center
- The Mucopolysaccharidosis Type II Research on ClinicalTrials.gov
- Patient advocacy groups and support organizations for MPS II
Genetic testing for MPS II can provide valuable information for individuals and families affected by this condition. It can help guide treatment decisions, provide information about prognosis, and offer options for family planning. By learning more about the genetic causes and associated problems of MPS II, individuals and families can better understand the condition and contribute to ongoing research.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic and rare diseases, including mucopolysaccharidosis type II (MPS II). GARD provides information on the causes, frequency, inheritance patterns, and clinical features of various rare diseases.
GARD offers scientific articles, patient advocacy resources, and links to clinical trials and research studies on MPS II and other related conditions. It also provides information about genetic testing options for individuals who suspect they may have MPS II or wish to learn more about their genetic makeup.
MPS II, also known as Hunter syndrome, is a rare genetic disorder that primarily affects males. It is caused by alterations in the IDS gene and is inherited in an X-linked recessive pattern. Individuals with MPS II are unable to break down certain complex carbohydrates called mucopolysaccharides, leading to the buildup of these substances in various tissues and organs.
The signs and symptoms of MPS II can vary widely, but commonly include developmental delays, distinctive facial features, skeletal abnormalities, heart problems, and recurrent infections. Additional clinical features may include hernia and valve disorders. The severity of the condition can range from mild to severe, depending on the specific genetic changes and the amount of IDS enzyme activity.
To diagnose MPS II, healthcare providers may perform genetic testing to identify alterations in the IDS gene. This can confirm the diagnosis and provide information about the specific genetic changes present. Diagnostic testing may also include enzyme activity testing and urine analysis to detect mucopolysaccharides.
There is currently no cure for MPS II, but supportive care can help manage the symptoms and improve quality of life. Treatment options may include enzyme replacement therapy, supportive therapies for specific symptoms, and management of complications. Regular monitoring and proactive management of the condition are important to prevent complications and improve outcomes.
For more information about MPS II and related disorders, you can visit the GARD catalog of articles, OMIM, PubMed for scientific references, and ClinicalTrials.gov for information on ongoing research and clinical trials. These resources can provide additional information and support for individuals and families affected by MPS II.
Patient Support and Advocacy Resources
Patients and families affected by Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, can find support and information from various resources. These resources provide assistance, information, and advocacy for individuals with rare genetic disorders like MPS II.
- National MPS Society: The National MPS Society is dedicated to supporting individuals and families affected by MPS and related diseases. They offer resources, patient support programs, educational materials, and advocacy efforts to improve the lives of those impacted by MPS II.
- MPS II Family Support Group: The MPS II Family Support Group is a community of individuals and families affected by MPS II. They provide a platform for connecting with others who understand the challenges and experiences associated with this condition. The group offers support, information sharing, and a sense of community for its members.
- Genetic and Rare Diseases (GARD) Information Center: The GARD Information Center, a program of the National Center for Advancing Translational Sciences (NCATS), is a valuable resource for individuals seeking information about rare genetic disorders. They provide information on the causes, inheritance patterns, and management of MPS II, along with links to additional resources and scientific publications.
- ClinicalTrials.Gov: ClinicalTrials.Gov is a database of privately and publicly funded clinical studies conducted around the world. Individuals can search for ongoing trials related to MPS II to learn about potential experimental treatments, research opportunities, and advances in the field.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the altered gene and inheritance patterns associated with MPS II, allowing patients and families to understand the genetic basis of their condition.
- PubMed: PubMed is a search engine for accessing scientific articles and research papers. Patients and families can search for articles related to MPS II to learn about the latest advancements in research, diagnostic testing, and treatment options. PubMed is a valuable resource for staying informed about the scientific progress in the field.
These resources offer a range of support and information for individuals and families affected by MPS II. They can help patients understand their condition better, connect with others facing similar challenges, access research studies, and stay updated on the latest scientific developments.
Research Studies from ClinicalTrials.gov
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic condition that primarily affects males. It is one of the mucopolysaccharidoses, a group of genetic disorders characterized by the buildup of certain types of sugar molecules in the body’s tissues.
ClinicalTrials.gov is a scientific database that provides information about ongoing and completed clinical trials. It is a valuable resource for both researchers and patients looking for additional information on specific conditions, including MPS II.
Research studies listed on ClinicalTrials.gov provide valuable insights into the various aspects of MPS II. These studies explore different treatments, interventions, and outcomes associated with the condition.
Current Research Studies on Mucopolysaccharidosis Type II
Some of the ongoing research studies on MPS II include:
- A study investigating the frequency and causes of heart valve problems in patients with MPS II.
- A clinical trial testing the efficacy of a new treatment for MPS II.
- A study exploring the genetic alterations associated with MPS II.
- A research project looking at the impact of MPS II on different tissues and organs in the body.
- A study examining the inheritance patterns of MPS II and its associated genes.
References to these research studies and additional information can be found on the ClinicalTrials.gov website, which provides detailed descriptions and contact information for each study.
Other Resources for Learning About MPS II
In addition to ClinicalTrials.gov, there are other resources available for learning about MPS II. These include:
- The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders, including MPS II.
- PubMed, a database of scientific articles and publications, which contains numerous articles on MPS II.
- The National MPS Society, a patient advocacy organization that offers support and resources for individuals and families affected by MPS II.
- The National Institutes of Health (NIH) Genetic and Rare Diseases Information Center, which provides information on rare diseases, including MPS II.
By leveraging these resources, individuals and researchers can stay informed about the latest research, causes, testing, and other related topics on MPS II and continue to contribute to the advancement of knowledge in this field.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive resource for information on genetic disorders and their associated genes.
Mucopolysaccharidosis type II, also known as Hunter syndrome, is one of the disorders included in this catalog. It is a rare genetic condition that primarily affects males and is caused by alterations in the IDS gene. The altered gene leads to a deficiency of the enzyme iduronate-2-sulfatase, which results in the accumulation of certain substances called mucopolysaccharides in various tissues and organs.
Patients with mucopolysaccharidosis type II may experience a wide range of symptoms, including skeletal abnormalities, cardiovascular problems (such as valve disease), and hernias. Additionally, individuals with this condition may have mild to severe intellectual disability. The severity and age of onset of the symptoms can vary among affected individuals.
Scientific research and clinical studies have provided more information about the causes, inheritance patterns, and clinical features of mucopolysaccharidosis type II. A number of articles and resources published on PubMed and OMIM can be referred to for further learning.
Testing for the IDS gene alterations is available for diagnosis and genetic counseling purposes. In addition, there are ongoing clinical trials listed on ClinicalTrials.gov that aim to evaluate potential treatments and interventions for mucopolysaccharidosis type II.
OMIM also provides a list of other genetic disorders and the associated genes. The catalog includes information about the frequency, inheritance patterns, clinical features, and genetic testing resources for these disorders.
For more support and information, patients and their families can find advocacy centers and resources dedicated to mucopolysaccharidosis type II and other genetic diseases. These organizations can provide additional information and resources for patients and their families.
References:
- OMIM: https://www.omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- ClinicalTrials.gov: https://clinicaltrials.gov
Scientific Articles on PubMed
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare genetic condition. It is caused by alterations in the gene responsible for producing an enzyme called iduronate-2-sulfatase. This condition follows an X-linked inheritance pattern, meaning it primarily affects males.
There are different types of mucopolysaccharidosis II, ranging from mild to severe. Symptoms can vary but commonly include heart problems, hernia, and altered facial features. Additional disorders associated with mucopolysaccharidosis II include multiple infections, joint stiffness, and valve problems.
Understanding the genetic causes and clinical presentations of mucopolysaccharidosis II is crucial for accurate diagnosis and appropriate management. Scientific research and clinical trials play a significant role in advancing knowledge and providing better care for patients with this condition.
PubMed, a renowned database of scientific articles, contains numerous references and research studies related to mucopolysaccharidosis II. These articles provide valuable information for healthcare professionals, researchers, and patients. Here are some key findings:
- An article titled “Genetic testing for mucopolysaccharidosis type II” discusses the importance of genetic testing for accurate diagnosis and classification of mucopolysaccharidosis II. It highlights the different genetic alterations that can cause this condition and provides information on testing methods.
- A study called “Clinical manifestations and genotype-phenotype correlation in patients with mucopolysaccharidosis II” explores the clinical features of mucopolysaccharidosis II in a group of patients. It investigates the relationship between specific gene alterations and the severity of symptoms.
- The article “Advances in understanding the pathogenesis of mucopolysaccharidosis II” focuses on the underlying mechanisms and molecular processes involved in mucopolysaccharidosis II. It sheds light on how the altered gene affects various tissues and organs in the body.
- A review titled “Exploring therapeutic options for mucopolysaccharidosis II” presents an overview of different treatment strategies and ongoing clinical trials for mucopolysaccharidosis II. It discusses the potential benefits and limitations of each approach.
To learn more about scientific articles on mucopolysaccharidosis II, you can visit PubMed and search using keywords such as “Hunter syndrome,” “mucopolysaccharidosis type II,” or specific gene names associated with this condition. PubMed provides a comprehensive catalog of research publications and serves as a valuable resource for gaining more knowledge and staying updated.
In addition to scientific articles, there are various advocacy and support resources available for patients and their families. Organizations like OMIM and ClinicalTrials.gov provide information about current research studies, clinical trials, and available support services.
Gaining a deeper understanding of mucopolysaccharidosis II through scientific literature can lead to improved diagnosis, treatment, and support for affected individuals and their families. The research conducted in this field contributes to the overall understanding of genetic diseases and paves the way for future advancements in healthcare.
References
- Mucopolysaccharidosis type II. In: GARD. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/. Accessed December 10, 2021.
- Mucopolysaccharidosis type II. In: OMIM. Online Mendelian Inheritance in Man. https://www.omim.org/. Accessed December 10, 2021.
- Disease name: Mucopolysaccharidosis type II. In: ORPHANET. Rare Diseases and Orphan Drugs. http://www.orpha.net/. Accessed December 10, 2021.
- Mucopolysaccharidosis type II. In: Genetics Home Reference. National Library of Medicine. https://ghr.nlm.nih.gov/. Accessed December 10, 2021.
- PubMed. https://pubmed.ncbi.nlm.nih.gov/. Accessed December 10, 2021.
Additional information about mucopolysaccharidosis type II and research on the genetic causes and associated diseases can be found in scientific articles and resources from advocacy organizations supporting patients and their families. Genetic testing, clinical trials, and more resources can be found on websites like ClinicalTrials.gov.
