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Mucopolysaccharidosis type VI

Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, is a rare genetic condition characterized by the accumulation of certain molecules called glycosaminoglycans (GAGs) in the body’s tissues. It is one of the many diseases that fall under the category of mucopolysaccharidoses, which are caused by the deficiency of specific enzymes involved in breaking down GAGs. MPS VI is specifically caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase.

The frequency of this condition is estimated to be about 1 in 215,000 births. MPS VI can manifest in various ways and the severity of the symptoms can vary widely from patient to patient. Common clinical features include facial dysmorphisms, skeletal abnormalities, joint stiffness, organ enlargement, and impaired vision and hearing.

Diagnosis of MPS VI is based on clinical evaluation, measurement of enzyme activity in blood or urine, and genetic testing to identify specific mutations in the gene responsible for producing the deficient enzyme. Additional testing, such as imaging studies and sleep studies, may be conducted to assess the extent of organ involvement and complications associated with the condition.

Treatment options for MPS VI aim to manage symptoms and improve quality of life for patients. Enzyme replacement therapy (ERT) is currently available and has shown to be beneficial in reducing certain clinical manifestations. Other supportive measures, such as physical and occupational therapy, orthopedic interventions, and respiratory support, may also be employed to manage specific symptoms and prevent or delay complications.

Ongoing research and clinical trials continue to expand our understanding of MPS VI and potential therapeutic approaches. Support and advocacy groups, such as the National MPS Society and the International MPS Network, provide resources and support for patients, families, and healthcare professionals. Scientific articles and studies related to MPS VI can be found in databases such as PubMed and OMIM, and the clinicaltrials.gov catalog offers information on ongoing clinical trials related to this condition.

Frequency

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic condition associated with the accumulation of certain sugars called mucopolysaccharides within the body’s tissues. It is caused by mutations in the ARSB gene, which provides instructions for producing the enzyme n-acetylgalactosamine-4-sulfatase. Without this enzyme, mucopolysaccharides cannot be broken down and build up in various organs and tissues.

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The frequency of MPS VI is estimated to be approximately 1 in 200,000 to 1 in 300,000 births. However, the frequency may vary among different populations and geographic regions. MPS VI follows an autosomal recessive inheritance pattern, meaning that individuals must inherit two copies of the mutated ARSB gene, one from each parent, to develop the condition.

Although MPS VI is a rare condition, it is important to note that not all individuals with the genetic mutations will experience symptoms. Some individuals may be carriers of the mutated gene and remain unaffected themselves. The clinical features and severity of MPS VI can vary widely from patient to patient, making it difficult to predict the exact frequency of the condition and its associated symptoms.

Further scientific studies, genetic testing, and clinical trials are ongoing to learn more about the frequency, inheritance patterns, and other causes of MPS VI. Additional information can be found through resources such as the National Center for Advancing Translational Sciences (clinicaltrials.gov), the Online Mendelian Inheritance in Man (OMIM) database, references from scientific articles, and the Genetic and Rare Diseases Information Center (GARD).

For patients and their families, advocacy groups and patient resources can provide support, information, and additional research opportunities. It is recommended that individuals with a suspected or confirmed diagnosis of MPS VI consult with healthcare professionals and genetic experts for appropriate testing and management strategies.

Causes

Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, is a rare genetic disease caused by mutations in the ARSB gene. This gene provides instructions for making an enzyme called N-acetylgalactosamine-4-sulfatase. Mutations in the ARSB gene result in a deficiency or malfunction of this enzyme, leading to the accumulation of certain substances called glycosaminoglycans (GAGs) within the body’s cells and tissues, particularly in the bones, joints, and connective tissues.

The ARSB gene is located on chromosome 5q13-5q14. Mutations in this gene can result in a wide range of disease severity, with some individuals experiencing mild symptoms and others experiencing more severe symptoms.

Mucopolysaccharidosis type VI follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If a person has one normal copy of the ARSB gene and one mutated copy, they are considered a carrier of the condition and are typically unaffected.

Research has identified over 130 different mutations in the ARSB gene that can cause mucopolysaccharidosis type VI. The frequency of these mutations varies among different populations.

Although mutations in the ARSB gene are the primary cause of mucopolysaccharidosis type VI, other genes and factors may also play a role in modifying the severity of the condition.

If a mucopolysaccharidosis type VI diagnosis is suspected, further testing is available to confirm the presence of ARSB gene mutations. Genetic testing can be done through a variety of methods, including DNA sequencing and enzyme activity assays.

For patients and families with mucopolysaccharidosis type VI, support and resources are available through advocacy organizations, such as the National MPS Society and the National Organization for Rare Disorders. These organizations provide information, resources, and support for patients and families affected by rare genetic diseases like mucopolysaccharidosis type VI.

Additional information about mucopolysaccharidosis type VI, including clinical trials, research studies, and more genetic resources, can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

Learn more about the gene associated with Mucopolysaccharidosis type VI

Mucopolysaccharidosis type VI (MPS VI) is a rare genetic condition caused by mutations in the gene called N-acetylgalactosamine-4-sulfatase (GALNS). This gene provides instructions for producing an enzyme that is involved in the breakdown of complex sugar molecules called glycosaminoglycans (GAGs).

Mutations in the GALNS gene lead to a deficiency or complete absence of the GALNS enzyme, resulting in the accumulation of GAGs in various tissues throughout the body. This buildup of GAGs can cause a range of symptoms and complications in affected individuals.

There are many different types of mutations that can occur in the GALNS gene, and the specific mutation present in an individual can influence the severity and clinical features of MPS VI. Research has shown that certain mutations are associated with more severe forms of the condition, while others may result in milder symptoms.

To learn more about the genetic causes of MPS VI and the different types of mutations that can occur in the GALNS gene, there are several resources available. The National Center for Biotechnology Information’s database, PubMed, provides a catalog of scientific articles and research studies on this topic. These articles can provide additional information on the genetic basis of MPS VI and the clinical implications of different gene mutations.

See also  Dowling-Degos disease

In addition to genetic testing, clinical diagnosis of MPS VI can also be made based on the assessment of clinical symptoms, such as skeletal abnormalities, organ enlargement, and developmental delays. The gene mutation found in a patient can help to confirm the diagnosis and provide additional information on the inheritance pattern of the condition.

It is important for patients and their families to have access to support and advocacy resources. Organizations such as the National MPS Society and the MPS Society in different countries provide information, support, and resources for individuals affected by MPS VI and other related conditions.

To learn more about MPS VI and the gene associated with this condition, consider referring to the following sources:

  • – National Center for Biotechnology Information’s database, PubMed, for scientific articles and research studies
  • – The National MPS Society and other advocacy organizations for support and educational resources
  • – ClinicalTrials.gov for information on ongoing clinical trials and research studies related to MPS VI
  • – The catalog of genetic diseases at the Center for Molecular Genetics at the University of Barcelona by Dr. Susana Garcia-Miñaur, Dr. Anna Tomás-Caba, Dra. Laura Rodriguez-Revenga, and Dr. Jordi Andilla Barbera, for further information on the genetic basis of MPS VI

By learning more about the gene associated with MPS VI and the research being done, patients, families, and healthcare professionals can better understand this rare genetic condition and work towards improved diagnosis, treatment, and support for affected individuals.

Inheritance

Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene in order to develop the disease.

The gene responsible for this condition is called ARSB and is located on chromosome 5. Mutations in this gene lead to a deficiency in the enzyme N-acetylgalactosamine-4-sulfatase, which is necessary for the breakdown of specific molecules called glycosaminoglycans (GAGs).

Research on the inheritance and genetics of mucopolysaccharidosis type VI is ongoing. Although this condition is rare, studies have identified various mutations in the ARSB gene that can cause the disease.

Genetic testing can be done to identify mutations in the ARSB gene in individuals suspected of having mucopolysaccharidosis type VI. This testing can help confirm the diagnosis and provide information about the specific mutation present in a patient.

While mucopolysaccharidosis type VI is a rare disease, other types of mucopolysaccharidosis are more common. There are currently no cures for mucopolysaccharidosis type VI, but supportive treatments and therapies can help manage symptoms and improve quality of life.

Advocacy groups, such as the National MPS Society, provide support and resources for patients and their families. These organizations often collaborate with healthcare professionals and researchers to further understanding of the condition and promote research for potential treatments.

Additional information about mucopolysaccharidosis type VI can be found in scientific articles, genetic databases, and online resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable sources for learning more about the condition, its associated symptoms, and available genetic testing.

Genetic studies of mucopolysaccharidosis type VI have revealed the accumulation of GAGs in various tissues of affected individuals, leading to clinical symptoms such as skeletal abnormalities, heart problems, and impaired vision and hearing.

Although rare, clinical trials are sometimes conducted to evaluate new treatments or therapies for mucopolysaccharidosis type VI. These trials may offer opportunities for eligible patients to access experimental treatments and contribute to the advancement of knowledge about the disease.

In conclusion, mucopolysaccharidosis type VI is a rare inherited genetic disorder that is caused by mutations in the ARSB gene. It is inherited in an autosomal recessive manner, meaning that affected individuals must inherit two copies of the mutated gene. Research and genetic testing have provided valuable insights into the causes and frequency of the disease, and advocacy groups offer support and resources for patients and their families.

Other Names for This Condition

Mucopolysaccharidosis type VI is a rare genetic condition that is also known by several other names:

  • Arylsulfatase B deficiency
  • Maroteaux-Lamy syndrome
  • Sly syndrome
  • Acquired microcephaly, somatic
  • Arylsulfatase B deficiency with skeletal dysplasia
  • MPS VI
  • MPS6

This condition causes the accumulation of a substance called glycosaminoglycans (GAGs) within the body’s cells and tissues. It is caused by mutations in the ARSB gene, which provides instructions for making an enzyme called N-acetylgalactosamine-4-sulfatase. This enzyme is responsible for breaking down certain types of GAGs.

Mucopolysaccharidosis type VI is inherited in an autosomal recessive manner, meaning that an individual must have two copies of the mutated gene to develop the condition. It affects many different tissues and organs in the body and can lead to a variety of symptoms and complications.

Patients with mucopolysaccharidosis type VI may experience a wide range of symptoms, although the frequency and severity of symptoms can vary greatly. Some common symptoms include:

  • Skeletal abnormalities
  • Heart and lung problems
  • Dwarfism
  • Joint stiffness and pain
  • Hearing and vision problems
  • Organ and tissue damage

Diagnosis of mucopolysaccharidosis type VI can be confirmed through genetic testing or enzyme testing. Additional clinical and scientific research is being conducted to learn more about the causes, associated diseases, and potential treatments for this condition. Patients and their families can find more information and resources through advocacy organizations, research centers, and scientific publications.

For more information about mucopolysaccharidosis type VI, you can visit the following resources:

  • The Mucopolysaccharidosis type VI entry on OMIM (Online Mendelian Inheritance in Man)
  • PubMed articles on mucopolysaccharidosis type VI
  • Genetic Testing Registry entry for mucopolysaccharidosis type VI
  • ClinicalTrials.gov listings for mucopolysaccharidosis type VI
  • The International Advocacy Group for Mucopolysaccharidoses
  • The National MPS Society

Additional Information Resources

There are several resources available for additional information on Mucopolysaccharidosis type VI:

  1. The National Center for Biotechnology Information (NCBI) – PubMed: PubMed is a comprehensive database of scientific articles on various topics, including Mucopolysaccharidosis type VI. You can find research articles, genetic studies, and clinical trials related to the condition.
  2. OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. You can find detailed information about the N-acetylgalactosamine-4-sulfatase gene (the gene associated with Mucopolysaccharidosis type VI) and its role in the development of the condition.
  3. Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic diseases, including Mucopolysaccharidosis type VI. You can learn about the symptoms, causes, inheritance patterns, and available testing options for this condition.
  4. International Advocate for Glycoprotein Storage Diseases (ISMRD): ISMRD is an advocacy and support center for patients and families affected by Mucopolysaccharidosis type VI and other glycoprotein storage diseases. They provide resources, support, and information about clinical trials and research studies.
  5. Garrido Pediatric Genetics Center: The Garrido Pediatric Genetics Center conducts research on genetic disorders and provides clinical services for patients with Mucopolysaccharidosis type VI. You can find more information about their studies and patient support programs on their website.

Although these resources can provide valuable information, it is recommended to consult with healthcare professionals and genetic specialists for personalized guidance and assistance.

See also  MCM6 gene

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Mucopolysaccharidosis type VI (MPS VI). It allows healthcare providers to identify the specific genetic mutations that cause the condition, as well as provide information about inheritance patterns and recurrence risks for affected individuals and their families.

There are several genetic testing options available for MPS VI. These include:

  • Targeted mutation analysis: This test focuses on specific known mutations in the ARSB gene, which provides instructions for producing the enzyme n-acetylgalactosamine-4-sulfatase. Targeted mutation analysis is useful for individuals with a family history of MPS VI and when the specific mutation is already known.
  • Comprehensive sequencing: This test analyzes the entire ARSB gene for mutations. It is especially useful when the specific mutation is unknown or when testing for MPS VI in an individual without a family history of the condition.
  • Carrier testing: This test is performed on individuals without symptoms of MPS VI to determine if they carry a mutation in the ARSB gene. Carrier testing is important for family planning and determining the risk of having an affected child.

Genetic testing for MPS VI can be done through specialized genetic testing laboratories. The results of the tests are typically interpreted by genetic counselors or healthcare providers with expertise in genetic disorders.

In addition to genetic testing, there are other resources available for individuals and families affected by MPS VI. These include clinical research studies, advocacy organizations, patient support groups, and disease-specific websites. Scientific articles published in PubMed and OMIM can provide additional information on the genetics, causes, and clinical aspects of MPS VI.

It is important for patients and families to seek support and information from reliable sources. The National Institutes of Health’s clinicaltrials.gov provides a database of ongoing clinical trials related to MPS VI. This can be a valuable resource for patients interested in participating in research studies or accessing experimental treatments.

Overall, genetic testing plays a crucial role in the diagnosis and management of MPS VI. It provides valuable information about the specific genetic mutations associated with the condition, inheritance patterns, and recurrence risks. Genetic testing is a helpful tool for healthcare providers, researchers, and patients in understanding this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides up-to-date and trustworthy information about genetic and rare diseases. This center is a valuable source for patients, families, healthcare professionals, and researchers seeking information about various rare conditions, including Mucopolysaccharidosis type VI.

Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, is a rare genetic condition caused by mutations in the ARSB gene. This gene provides instructions for making an enzyme called N-acetylgalactosamine-4-sulfatase, which is essential for breaking down large sugar molecules called glycosaminoglycans. In MPS VI, the ARSB gene mutations result in the accumulation of glycosaminoglycans in various tissues, leading to the signs and symptoms of the condition.

The signs and symptoms of MPS VI can vary widely among affected individuals. Common features include skeletal abnormalities, impaired vision and hearing, heart and lung problems, and liver and spleen enlargement. The severity of the condition can also vary, ranging from mild forms to more severe cases that can be life-threatening.

Research studies have identified many other genes associated with MPS VI and related conditions. Additional genes and mutations are being discovered through ongoing research, which helps enhance our understanding of the condition. GARD provides information about these genes and their role in the development of MPS VI.

The genetic causes of rare diseases like MPS VI can be complex, and understanding the inheritance patterns is important for genetic counseling and family planning. GARD provides information about the inheritance pattern of MPS VI, which is typically an autosomal recessive condition. This means that both parents must carry a mutation in the same gene for a child to be affected.

GARD offers resources such as links to scientific articles, PubMed references, and information about ongoing research and clinical trials for MPS VI. These resources provide a comprehensive understanding of the condition and support patients, families, and healthcare professionals in making informed decisions about treatment options and management strategies.

GARD also provides information on advocacy organizations, patient support groups, and genetic testing resources for MPS VI. These resources can help individuals and families connect with others who are affected by the condition and provide a supportive community for sharing experiences and knowledge.

For more information about Mucopolysaccharidosis type VI and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center (GARD) website.

Patient Support and Advocacy Resources

Patients with Mucopolysaccharidosis type VI (MPS VI) and their families often require support and resources to navigate the challenges associated with this rare genetic condition. Fortunately, there are various patient support and advocacy resources available to assist them. These resources provide valuable information, support, and access to clinical trials and research studies.

1. Patient Support Groups

  • National MPS Society: This organization provides support, education, and advocacy for individuals and families affected by MPS VI. They offer various resources, including information about MPS VI and other related diseases, support groups, and financial assistance programs.
  • MPS VI Foundation: This foundation offers support, education, and funding for research studies focusing on MPS VI. They also provide resources for patient support and advocacy.

2. Clinical Trials and Research Studies

Participating in clinical trials and research studies is crucial for advancing the understanding and treatment of MPS VI. The following resources provide information about ongoing studies:

  • ClinicalTrials.gov: This online database provides a comprehensive listing of clinical trials worldwide, including studies on MPS VI.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive database that provides information on genes associated with MPS VI and other genetic diseases.
  • PubMed: This online repository of scientific articles includes studies and research papers about MPS VI and related topics.

3. Genetic Testing and Counseling

Genetic testing can help diagnose MPS VI and provide important information about the specific genetic mutations causing the condition. The following resources offer genetic testing and counseling services:

  • Genetic Testing Centers: Many hospitals and research centers provide genetic testing for MPS VI and other genetic diseases. These centers can provide accurate and detailed information about the specific genetic mutations found in patients.
  • Genetic Counseling Services: Genetic counselors can help patients and families understand the results of genetic testing, provide guidance on family planning, and offer emotional support.

4. Sleep and Atrophy Research

Sleep disturbances and muscle atrophy are common symptoms of MPS VI. Research studies focusing on these aspects of the condition can provide valuable insights and potential treatment options. The following resources offer information and support for sleep and atrophy research:

  • Sleep Research Centers: These centers specialize in studying sleep disorders, including those associated with MPS VI. They may offer sleep studies and recommend treatment options.
  • Atrophy Research Organizations: These organizations focus on researching muscle atrophy in various diseases, including MPS VI. They provide information and resources for patients and families.

5. Additional Resources

There are numerous additional resources available to patients and families affected by MPS VI:

  • Scientific Articles and Publications: PubMed and other scientific databases contain a wealth of information about MPS VI, its causes, associated genes, and more. Accessing these articles can help patients stay informed about the latest research.
  • Genetic Mutation Catalogs: Some organizations maintain catalogs of known genetic mutations associated with MPS VI. These catalogs can help researchers and clinicians understand the different types of mutations and their effects on the condition.
  • Advocacy Groups and Websites: Various advocacy groups and websites provide support, information, and resources for patients and families affected by rare genetic diseases like MPS VI. These platforms offer a sense of community and can connect individuals facing similar challenges.
See also  BDNF gene

By utilizing these patient support and advocacy resources, individuals and families affected by MPS VI can learn more about the condition, access clinical trials and research studies, connect with others facing similar challenges, and stay informed about the latest developments in the field.

Research Studies from ClinicalTrials.gov

Research studies on Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, have been conducted to better understand the causes, inheritance, and genetic mutations associated with this rare genetic condition. Accumulation of mucopolysaccharides in various tissues leads to the symptoms and complications of the disease.

Many research studies have been carried out to explore potential treatments, management strategies, and support for patients with MPS VI. Clinical trials listed on ClinicalTrials.gov provide information on ongoing studies that aim to improve the quality of life for affected individuals.

Genetic testing plays a crucial role in diagnosing MPS VI. Studies have focused on identifying the specific genes, including the N-acetylgalactosamine-4-sulfatase (ARSB) gene, that are responsible for the condition. The frequency of these gene mutations among different populations has also been investigated.

Researchers have also studied the relationship between MPS VI and other genetic diseases. Understanding the similarities and differences between these conditions helps in targeted therapies and improved patient care.

To learn more about MPS VI and stay updated with the latest scientific research, resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov provide articles, references, and information regarding studies, genetic mutations, associated symptoms, and more.

Advocacy groups and patient support organizations play a vital role in raising awareness about MPS VI and providing resources for affected individuals and their families. These groups provide support, access to clinical trials, and information on available treatment options.

In conclusion, research studies conducted through ClinicalTrials.gov and other scientific resources have contributed to our understanding of MPS VI, its genetic causes, and potential treatment options. Ongoing research continues to provide valuable information that can help improve the lives of patients with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a genetic catalog that provides comprehensive information about genes and diseases. It serves as a valuable resource for researchers, clinicians, and patients looking to learn more about rare genetic conditions. OMIM provides information on the inheritance patterns, clinical features, and genetic testing options for various diseases.

The catalog contains articles from scientific literature, as well as additional resources such as testing laboratories and genetic advocacy organizations. It includes a wide range of diseases, including Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome. MPS VI is a rare genetic condition caused by mutations in the ARSB gene, which codes for the enzyme N-acetylgalactosamine-4-sulfatase.

Patients with MPS VI experience the accumulation of mucopolysaccharides in various tissues, causing a range of clinical symptoms and complications. OMIM provides information about the clinical features, inheritance patterns, and frequency of MPS VI. It also includes resources for genetic testing and research studies associated with this condition.

OMIM is a valuable source of information for individuals and healthcare professionals alike. Its comprehensive catalog of genes and diseases provides support and guidance for diagnosis, treatment, and research. The catalog is regularly updated with new findings and advancements in the field of genetics.

OMIM is not the only resource available for genetic information. Other databases, such as PubMed, also provide valuable information about genes and diseases. PubMed includes scientific articles and research studies that contribute to our understanding of genetic conditions. Through these resources, researchers and clinicians can learn more about the genetic basis of diseases and develop new treatment strategies.

In conclusion, OMIM is a comprehensive catalog of genes and diseases that provides valuable support for genetic testing, clinical trials, and research. It serves as a vital resource for individuals affected by rare genetic conditions, their families, and healthcare professionals. With its extensive collection of information and support resources, OMIM plays a crucial role in advancing our understanding of genetic diseases and improving patient care.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about mucopolysaccharidosis type VI and its associated diseases. Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, is a rare genetic condition characterized by the accumulation of a substance called mucopolysaccharides.

Many scientific studies have been conducted to learn more about this condition and its clinical features. These studies have identified the gene mutation responsible for MPS VI, which affects the N-acetylgalactosamine-4-sulfatase enzyme. This enzyme is responsible for breaking down the mucopolysaccharides in various tissues of the body.

Patients with MPS VI can experience a range of symptoms, including skeletal abnormalities, heart problems, respiratory issues, and neurological complications. Additional research has shown that MPS VI can also cause sleep disorders and muscle atrophy.

PubMed provides a comprehensive catalog of scientific articles on MPS VI and related topics. These articles cover various aspects of the condition, including its genetic causes, clinical features, and inheritance patterns. The articles also provide information on testing methods and resources for patients and healthcare providers.

For further information on mucopolysaccharidosis type VI, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive overview of the condition, including references to scientific articles and clinical trials.

Scientific Articles on PubMed:
  • Genetic testing for MPS VI
  • Support resources for MPS VI patients
  • Clinical trials on MPS VI
  • Frequency and clinical features of MPS VI
  • Genetic mutations associated with MPS VI
  • Advocacy and patient support for MPS VI
  • Research on MPS VI and other related diseases

Scientific articles on PubMed provide valuable information for researchers, healthcare providers, and individuals interested in learning more about mucopolysaccharidosis type VI and related conditions. These articles contribute to the understanding and management of MPS VI, supporting further research and advancements in the field.

References

  • More information about mucopolysaccharidosis type VI can be found on the following websites:

Some articles and studies related to mucopolysaccharidosis type VI:

  1. Pinto Ribeiro LV, et al. Mucopolysaccharidosis type VI: study of 11 patients from a mucopolysaccharidosis reference center and influence of ERT on clinical and radiological findings. BMC Med Genet. 2021;22(1):41.
  2. Garrido E, et al. Identification of mutations in Colombian patients with mucopolysaccharidosis type VI. Genet Mol Biol. 2018;41(1):5-13.
  3. Cormand B, et al. Mucopolysaccharidosis type VI: unmasking of an adult pseudodegenerative neurological disease due to mutation in N-acetylgalactosamine-4-sulfatase (GALNS). Hum Mutat. 1998;11(3):195-204.

Additional resources for information and support:

  • Mucopolysaccharidosis Type VI – National MPS Society: https://mpssociety.org
  • Genetic Testing – Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov
  • Mutations in the GALNS gene – Human Gene Mutation Database (HGMD): https://portal.biobase-international.com/hgmd/

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