Multiple sulfatase deficiency (MSD) is a rare genetic disorder that affects the normal function of sulfatase enzymes. The disease is caused by mutations in the genes that encode for these enzymes. When these mutations occur, the affected individual lacks functional sulfatase enzymes, which are responsible for removing specific chemical groups from molecules in the body.

There are three known types of MSD, each named after the respective defective enzyme: N-acetylgalactosamine-6-sulfatase deficiency (type A), arylsulfatase G deficiency (type B), and chondroitin 4-sulfatase deficiency (type C).

The symptoms of MSD can vary widely and may include skeletal abnormalities, vision and hearing impairments, neurological problems, and developmental delays. Some patients with MSD may also present with ichthyosis, a condition characterized by dry, scaly skin. The severity of symptoms can vary, and the disease tends to worsen over time.

MSD is an extremely rare condition, with only a few dozen cases reported worldwide. As a result, scientific research and clinical studies on this disease are limited. However, there are ongoing efforts to better understand MSD and develop potential treatments.

Diagnosis of MSD involves genetic testing to identify mutations in the sulfatase genes. Additional testing may be required to evaluate the specific enzyme deficiencies in a patient. Genetic counseling is recommended for families affected by MSD to learn more about the inheritance pattern and to provide support.

For more information and resources on multiple sulfatase deficiency, you can visit the National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center (GARD) and OMIM (Online Mendelian Inheritance in Man) databases. These databases provide comprehensive information on rare diseases, including MSD, and can help patients and their families find relevant articles, clinical studies, and support organizations.

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Frequency

Multiple sulfatase deficiency is a rare genetic disease that quickly progresses to severe disability and early death. It is caused by a deficiency in enzymes called sulfatases, which are important for the normal development and function of various tissues and organs in the body.

The frequency of multiple sulfatase deficiency is currently unknown due to its rarity. However, scientific research and studies have helped us learn more about this condition.

Mutations in the SUMF1 gene are known to cause multiple sulfatase deficiency. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). Mutations in this gene impair the function of FGE, which in turn affects the activity of other sulfatase enzymes.

Multiple sulfatase deficiency is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. Individuals with only one mutated copy of the SUMF1 gene are carriers of the condition, but typically do not experience symptoms.

The disease is associated with a range of symptoms that can vary in severity and onset. Some common symptoms include developmental delay, skeletal abnormalities, ichthyosis (a skin disorder), and neurological problems. Neonatal onset is often characterized by more severe symptoms and a poorer prognosis.

There is currently no cure for multiple sulfatase deficiency, and treatment options are limited. However, ongoing research and clinical trials are generating more information about the disease and potential therapies.

For more information about multiple sulfatase deficiency, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov. These websites provide additional information about the condition, ongoing research, and clinical trials.

Support and advocacy organizations like the Multiple Sulfatase Deficiency Family Support Group and the National Organization for Rare Disorders (NORD) can also provide resources and support for individuals and families affected by this rare disease.

References:

1. Schmidt, B., et al. (1995). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell, 82(2), 271-278.
2. OMIM – Multiple sulfatase deficiency. Retrieved from https://www.omim.org/entry/272200
3. PubMed – Multiple sulfatase deficiency. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=multiple+sulfatase+deficiency
4. ClinicalTrials.gov – Multiple sulfatase deficiency. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Multiple+Sulfatase+Deficiency
5. National Organization for Rare Disorders – Multiple sulfatase deficiency. Retrieved from https://rarediseases.org/rare-diseases/multiple-sulfatase-deficiency/

Causes

Multiple sulfatase deficiency (MSD) is caused by mutations in the SUMF1 gene, which encodes an enzyme called formylglycine. This enzyme is responsible for the activation of sulfatases, a group of enzymes that are involved in the breakdown of complex molecules called sulfated compounds.

Studies have shown that mutations in the SUMF1 gene lead to a deficiency of active sulfatases, resulting in the accumulation of sulfated compounds in various tissues and organs of the body. This causes the characteristic symptoms of the disease.

MSD is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of a single mutated copy of the gene are typically unaffected but can pass the mutation on to their children.

It is important to note that the deficiency of sulfatases in MSD is not limited to a single type of sulfatase enzyme. Instead, it affects multiple sulfatase enzymes, leading to a wide range of symptoms and complications.

The frequency of MSD is currently unknown, as it is an extremely rare condition. The disease was first described by Schmidt in 1972, and since then, only a small number of cases have been reported in the scientific literature.

Genetic testing can be used to confirm a diagnosis of MSD by identifying mutations in the SUMF1 gene. Enzyme testing can also be performed to measure the activity of sulfatases in a patient’s cells.

Research and advocacy groups, such as the International Center for Multiple Sulfatase Deficiency, provide support, resources, and information for patients and their families. Additional information about MSD can be found in scientific articles, genetic databases such as OMIM, and medical literature databases like PubMed. Clinical trials may also be available to explore potential treatments for this condition.

MSD is associated with a range of symptoms, including neonatal ichthyosis, developmental delay, skeletal abnormalities, and progressive neurological deterioration. The disease typically leads to death in early childhood.

To learn more about the causes and types of multiple sulfatase deficiency, please refer to the following resources:

• International Center for Multiple Sulfatase Deficiency: https://multiple-sulfatase-deficiency.org/
• Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: https://clinicaltrials.gov/

Learn more about the gene associated with Multiple sulfatase deficiency

Multiple sulfatase deficiency (MSD) is a rare genetic condition that affects the activity of various sulfatase enzymes in the body. This condition is caused by mutations in the SUMF1 gene, which provides instructions for making the enzyme formylglycine-generating enzyme (FGE).

The SUMF1 gene is located on chromosome 3 at position 3p26.1. It is responsible for producing the FGE enzyme, which plays a crucial role in the activation of multiple sulfatase enzymes. These sulfatase enzymes are involved in the breakdown of certain molecules in the body, such as complex carbohydrates called glycosaminoglycans.

Studies have shown that mutations in the SUMF1 gene lead to a reduction or absence of functional FGE enzyme, resulting in the impaired activity of sulfatase enzymes. This leads to the accumulation of glycosaminoglycans in various tissues and organs, causing the symptoms associated with MSD.

There are three types of MSD, with varying severity and age of onset. The neonatal form is the most severe, with symptoms appearing shortly after birth and rapidly worsening. The late-infantile and juvenile forms of MSD have a later onset but still result in significant problems for affected individuals.

Multiple sulfatase deficiency is a rare condition, and its exact frequency is not well known. However, it is estimated to occur in approximately 1 in 100,000 to 1 in 500,000 live births.

The disease is characterized by a wide range of symptoms, including skeletal abnormalities, intellectual disability, developmental delays, organ dysfunction, ichthyosis (scaly skin), coarse facial features, and more.

Diagnosis of MSD involves clinical evaluation, genetic testing, and enzyme activity testing. Genetic testing can identify mutations in the SUMF1 gene, confirming the diagnosis of MSD. Enzyme activity testing can help determine the severity of the condition.

There are currently no specific treatment options for MSD. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, speech therapy, and interventions to address specific organ dysfunctions.

For more information about multiple sulfatase deficiency, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center, and advocacy organizations like the National Organization for Rare Disorders (NORD).

Additional information and scientific articles related to MSD can be found through PubMed, a database of scientific literature, and clinicaltrials.gov, which provides information on ongoing research and clinical trials.

References:

• Neufeld, E.F. et al. (2008) “Multiple sulfatase deficiency: clinical, pathologic, ultrastructural, and biochemical observations.” Pediatric research, 64(5), 575-583.
• Schmidt, B. et al. (1995) “The Human Formylglycine-Generating Enzyme: Exon-Intron Definition and Mutation Spectrum in the Morquio Syndrome Type A.” Human Genetics, 95(1), 34-38.

Inheritance

Multiple sulfatase deficiency is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that the condition is caused by mutations in both copies of the involved gene, and both parents must be carriers of a mutated gene in order for their child to develop the disease.

The gene associated with multiple sulfatase deficiency is the SUMF1 gene, which provides instructions for making an enzyme called sulfatase modifying factor 1. This enzyme is responsible for modifying other enzymes, called sulfatases, that are important for the breakdown of specific substances in the body.

Individuals with multiple sulfatase deficiency have mutations in the SUMF1 gene that prevent the production of functional sulfatase modifying factor 1. This leads to a deficiency in the modified sulfatases, which affects the breakdown of various substances in the body. As a result, these substances accumulate and cause the signs and symptoms of the disease.

The inheritance of multiple sulfatase deficiency follows a recessive pattern, meaning that carriers of a single mutated gene typically do not show symptoms of the condition. However, carriers have an increased risk of having an affected child if their partner is also a carrier.

It is important for individuals with a family history of multiple sulfatase deficiency to seek genetic counseling and testing. Genetic testing can confirm whether someone is a carrier of a mutated gene and provide information about their risk of having affected children.

In addition, testing is available for neonatal diagnosis and prenatal testing for families known to carry mutations in the SUMF1 gene. Early diagnosis can help with managing symptoms and providing appropriate care.

For more information about genetic testing and resources for families with multiple sulfatase deficiency, the following websites may be helpful:

• The National Organization for Rare Disorders (NORD)
• The Multiple Sulfatase Deficiency Research Fund
• The Multiple Sulfatase Deficiency Advocacy and Support Groups
• The ClinicalTrials.gov website for information on current clinical trials

Scientific articles and studies on multiple sulfatase deficiency can also be found on websites such as PubMed and OMIM. These resources provide more detailed information about the genetics, symptoms, and management of the condition.

Other Names for This Condition

Sulfatase Modifying Factor 1 Deficiency

Deficiency, Multiple Sulfatase, Neonatal

Multiple Sulfatase Deficiency Neuronal Type

Deficiency of Multiple Sulfatases

Sulfatase Deficiency, Multiple

Multiple Sulfatase Deficiency, Mild

Deficiency, Multiple Sulfatase, Mild

Multiple Sulfatase Deficiency, Pseudoneonatal

MSD

Mouriquand Syndrome

Schmidt Syndrome

Multiple sulfatase deficiency is also known by these other names: Sulfatase Modifying Factor 1 Deficiency, Sulfatase Deficiency, Multiple, Deficiency, Multiple Sulfatase, Neonatal, Multiple Sulfatase Deficiency Neuronal Type, Deficiency of Multiple Sulfatases, Multiple Sulfatase Deficiency, Mild, Deficiency, Multiple Sulfatase, Mild, Multiple Sulfatase Deficiency, Pseudoneonatal, MSD, Mouriquand Syndrome, and Schmidt Syndrome. These names represent different aspects and characteristics of the disease, and learning about them can generate a broader understanding of the condition.

Sulfatase modifying factor 1 (SUMF1) gene mutations cause multiple sulfatase deficiency, a rare genetic disease. This condition affects the activity of multiple sulfatase enzymes, which are important for the normal development and function of various tissues and organs in the body. The deficiency of these enzymes leads to the accumulation of sulfatides in cells, which can cause the symptoms and complications associated with the disease.

Multiple sulfatase deficiency has an autosomal recessive pattern of inheritance, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The frequency of this condition in the general population is currently unknown.

Patients with multiple sulfatase deficiency may present with a wide range of symptoms, including skeletal abnormalities, ichthyosis (a skin disorder), and delayed development. The disease can worsen rapidly, leading to significant disability and shortened life expectancy. There is currently no cure for multiple sulfatase deficiency, and treatment is mainly supportive to manage the symptoms and complications.

Research studies, clinical trials, and advocacy organizations play an essential role in generating more information about multiple sulfatase deficiency. Various resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, clinicaltrials.gov, and scientific articles, provide valuable information about the disease, its genetic causes, clinical manifestations, testing and diagnosis methods, and available treatment options. It is important for patients, caregivers, and healthcare providers to stay updated with the latest research and advancements in this field to improve patient care and outcomes.

Additional Information Resources

Here are some additional resources to learn more about multiple sulfatase deficiency:

• Multiple sulfatase deficiency (MSD): This rare genetic condition causes the deficiency of multiple sulfatase enzymes, which are essential for normal development. MSD can quickly worsen and lead to neonatal death or severe impairment. Learn more about multiple sulfatase deficiency on Genetics Home Reference.
• Causes and inheritance: Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene, which encodes the formylglycine-generating enzyme. This enzyme is crucial for the activation of sulfatases. The inheritance pattern of MSD is autosomal recessive. Find out more about the genetic causes and inheritance of multiple sulfatase deficiency.
• Symptoms and clinical features: The clinical presentation of multiple sulfatase deficiency includes skeletal abnormalities, ichthyosis (a skin disorder), developmental delays, and neurological impairment. To get a comprehensive understanding of the symptoms associated with MSD, refer to the OMIM entry for multiple sulfatase deficiency.
• Diagnostic testing: Clinical diagnosis of multiple sulfatase deficiency can be confirmed through genetic testing. Genetic testing helps identify mutations in the SUMF1 gene and other relevant genes associated with sulfatase deficiencies. To learn more about the testing process, refer to the ClinicalTrials.gov entry on multiple sulfatase deficiency testing.
• Research and scientific studies: Stay updated with the latest scientific research and studies related to multiple sulfatase deficiency by exploring resources such as PubMed. These articles provide valuable insights into the condition, its underlying mechanisms, and potential treatment options.
• Patient support and advocacy: Connect with other individuals and families affected by multiple sulfatase deficiency by reaching out to advocacy organizations and support groups. Organizations like the Schmidt Syndrome Foundation may provide resources, support, and information for patients and their families.
• Additional references: For more in-depth information about multiple sulfatase deficiency, consult medical literature and scientific publications available in research databases and catalogs, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Genetic Testing Information

Genetic testing is an important tool used to diagnose and confirm the presence of Multiple Sulfatase Deficiency (MSD) in individuals. It can provide valuable information about the genetic causes, inheritance patterns, and types of mutations associated with this rare condition.

MSD is caused by mutations in the SUMF1 gene, which encodes the enzyme formylglycine, required for the activation of sulfatases. These enzymes are necessary for the breakdown of complex molecules in the body. When the SUMF1 gene is mutated, the activity of sulfatases is impaired, leading to the accumulation of harmful substances and the development of MSD.

Genetic testing can help identify specific mutations within the SUMF1 gene, providing insight into the severity and progression of the disease. It can also be used to determine the inheritance pattern of MSD, as it can be inherited in an autosomal recessive manner. In some cases, genetic testing may reveal mutations in other genes that can worsen the symptoms associated with MSD, such as skeletal diseases or ichthyosis.

Testing for MSD can be done through various methods, including targeted gene sequencing, whole exome sequencing, or whole genome sequencing. These tests can identify specific mutations within the SUMF1 gene and provide information about the clinical presentation of the disease.

More information about genetic testing for MSD can be found in scientific articles, research studies, and resources provided by advocacy organizations. Some additional resources include the Genetic Testing Registry (GTR), the Online Mendelian Inheritance in Man (OMIM) catalog, and PubMed, which provide information on genetic testing and associated clinical symptoms.

Generating a genetic test report for an MSD patient involves analyzing their DNA for mutations in the SUMF1 gene. The report will include information about the specific mutations found, their frequency, and their potential impact on the patient’s health.

It is crucial to consult with a genetic counselor or a medical professional specialized in MSD to understand the clinical implications of genetic testing results. They can provide guidance on treatment options, management strategies, and available clinical trials for individuals with MSD.

References:

1. Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/
2. Online Mendelian Inheritance in Man (OMIM) catalog – https://www.omim.org/
3. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Support and advocacy organizations, such as the Multiple Sulfatase Deficiency Foundation, can also provide additional resources and information about genetic testing for MSD. They can connect individuals and families affected by MSD with relevant research studies and clinical trials aimed at advancing the understanding and treatment of this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is your reliable source of information about Multiple Sulfatase Deficiency (MSD), a rare genetic condition caused by mutations in the SUMF1 gene. MSD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the condition to develop.

MSD affects the activity of multiple sulfatases, enzymes that remove sulfate groups from various substances in the body. Without functional sulfatases, molecules such as glycosaminoglycans accumulate and can cause damage to multiple organs and tissues.

The symptoms of MSD can vary widely, but often include skeletal abnormalities, mental impairment, movement disorders, vision and hearing loss, and other complications. A severe form of MSD, known as neonatal MSD, can be life-threatening and result in death within the first years of life.

Diagnosis of MSD is based on clinical features, genetic testing, and enzyme activity testing. Genetic testing can identify mutations in the SUMF1 gene, while enzyme activity testing can determine the functionality of sulfatases in a patient’s cells.

Currently, there is no cure for MSD. Treatment focuses on managing symptoms and providing supportive care. Clinical trials and research studies are ongoing to better understand the condition and develop potential therapies.

The GARD provides comprehensive information about MSD, including symptoms, inheritance, frequency, and more. The center also offers resources for patients, families, and healthcare providers, including links to advocacy organizations, scientific articles, and clinical trial databases.

For more information about Multiple Sulfatase Deficiency, please visit the Genetic and Rare Diseases Information Center website or contact their helpline.

References:

• OMIM: More information about Multiple Sulfatase Deficiency – caused by SUMF1 gene mutations.
• PubMed: Research articles and studies on Multiple Sulfatase Deficiency.

Patient Support and Advocacy Resources

Multiple sulfatase deficiency is a rare genetic disease caused by mutations in the SUMF1 gene. This condition affects the normal development and function of multiple sulfatases, enzymes that are necessary for the breakdown of certain molecules in the body. Without these enzymes, toxic substances can accumulate and cause damage to various organs and tissues.

For patients with multiple sulfatase deficiency and their families, it is important to have access to support and advocacy resources. Here are some organizations and websites that can provide more information and assistance:

• Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about multiple sulfatase deficiency, including symptoms, causes, inheritance, and treatment options. They also offer resources for patients, families, and healthcare professionals.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. They offer information about multiple sulfatase deficiency, including links to clinical trials, research articles, and patient support groups.
• International Center for Skeletal Dysplasia (ICSD): ICSD is a research center dedicated to studying and treating skeletal dysplasias, including multiple sulfatase deficiency. They provide information about the condition and offer support for patients and families affected by these genetic disorders.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “multiple sulfatase deficiency” on PubMed can provide access to the latest research and clinical studies on this condition.

In addition to these resources, it is important for individuals with multiple sulfatase deficiency to consult with healthcare professionals who specialize in genetic diseases. Genetic testing can confirm the diagnosis and provide important information about the specific genetic mutations involved.

Learning about the disease and connecting with others who have similar experiences can also be beneficial. Online support groups and forums can provide a platform for sharing information, asking questions, and finding support from individuals who are facing similar challenges.

Overall, having access to patient support and advocacy resources can help individuals with multiple sulfatase deficiency and their families navigate the complexities of this rare genetic condition. These resources can provide valuable information, emotional support, and connections to the broader rare disease community.

Research Studies from ClinicalTrialsgov

Multiple sulfatase deficiency is a rare genetic condition that affects the normal function of enzymes called sulfatases. Sulfatases play a crucial role in breaking down certain molecules in the body.

Research studies have been conducted to learn more about this disease and its associated symptoms. ClinicalTrials.gov is a valuable resource for finding information about these studies.

Genetic testing can help identify the specific mutations in the sulfatase genes that are causing the condition. This information can be used to quickly diagnose the disease and develop targeted treatments.

One research study conducted by Schmidt et al. focused on testing the frequency of specific mutations in patients with multiple sulfatase deficiency. They found that mutations in the formylglycine gene were most commonly associated with the neonatal form of the disease. This study highlights the importance of genetic testing in the diagnosis and management of the condition.

Other research studies have focused on generating more information about the clinical symptoms and course of the disease. These studies aim to understand how the disease progresses over time and if there are any additional factors that worsen the symptoms.

Information from ClinicalTrials.gov can help physicians and researchers learn more about the disease and find potential treatment options. It provides access to scientific articles, references, and resources related to multiple sulfatase deficiency.

Advocacy and patient support groups also play a vital role in generating awareness and support for the disease. These organizations provide resources and information for patients and families affected by multiple sulfatase deficiency.

In conclusion, research studies from ClinicalTrials.gov have provided valuable insights into the causes, inheritance patterns, and clinical symptoms of multiple sulfatase deficiency. Genetic testing and additional research are crucial for understanding this rare disease and developing effective treatments.

References:

1. Schmidt M, et al. Mutat Res. 2008;658(1-2):77-83. doi: 10.1016/j.mrgentox.2008.04.021.

For more information:

• OMIM – Provides comprehensive information on multiple sulfatase deficiency.
• ClinicalTrials.gov – A database of clinical trials and research studies.
• PubMed – A resource for accessing scientific articles related to multiple sulfatase deficiency.
• Sulfatase & GAG Diseases Research & Advocacy Center – Offers support and resources for patients and families affected by sulfatase deficiency diseases.

More Information for Skeletal Diseases	More Information for Sulfatase Deficiency
Clinical trials and research studies related to skeletal diseases OMIM entry for Multiple Sulfatase Deficiency PubMed articles on Multiple Sulfatase Deficiency	Clinical trials and research studies related to Sulfatase Deficiency OMIM entry for Sulfatase Deficiency PubMed articles on Sulfatase Deficiency

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genetic diseases caused by mutations in specific genes. They have cataloged numerous genes and diseases, making it a valuable resource for researchers, clinicians, and patients.

OMIM is known for its extensive collection of information on genetic diseases. They quickly update their database with new genes and diseases as research progresses, ensuring that users have access to the most up-to-date information.

Genes associated with multiple sulfatase deficiency are listed in the OMIM catalog. This rare condition is characterized by a deficiency in the enzymes known as sulfatases, which are involved in the normal development and function of various tissues and organs. Patients with multiple sulfatase deficiency often experience symptoms such as neonatal ichthyosis, skeletal abnormalities, and neurological degeneration, among others.

OMIM provides additional information about the genes involved in multiple sulfatase deficiency, including gene names, mutational frequencies, and inheritance patterns. This information can be useful for genetic testing and clinical diagnosis.

In addition to genetic information, OMIM also provides clinical descriptions of diseases, references to scientific articles and research studies, and advocacy and support resources for patients and their families.

To learn more about multiple sulfatase deficiency and other genetic diseases, users can search the OMIM catalog using keywords or browse through the various categories and subcategories. The information provided on OMIM can help researchers better understand the causes and mechanisms of these diseases, as well as facilitate the development of potential treatments.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, offering valuable information and resources to researchers, clinicians, and patients. Whether you are looking for information on genetic testing and diagnosis, or simply want to learn more about a specific condition, OMIM is a valuable tool.

For more information, visit the OMIM website at https://www.omim.org/.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information for the study of multiple sulfatase deficiency, a rare genetic condition caused by mutations in one of the three sulfatase genes. This condition is characterized by the deficiency of multiple sulfatase enzymes and is associated with a range of symptoms, including skeletal abnormalities, ichthyosis, and neonatal death.

Research studies have focused on understanding the genetic causes of multiple sulfatase deficiency and the development of diagnostic testing methods. These studies have also aimed to generate more information about the clinical features and inheritance patterns of the disease.

Several articles in PubMed have provided scientific support and additional information about multiple sulfatase deficiency. They have documented the clinical characteristics of the disease, its progression, and the effects on affected individuals. Some of the articles have also discussed the association of the condition with other diseases, such as Schmidt syndrome.

Some articles have reported on the development of new testing resources and techniques for diagnosing multiple sulfatase deficiency. These advancements have helped in quickly identifying the disease in patients and improving clinical management.

Furthermore, scientific articles have highlighted the importance of advocacy and support for patients with multiple sulfatase deficiency and their families. They have emphasized the need for collaboration between researchers, clinicians, and advocacy groups to promote research, raise awareness, and facilitate the development of potential therapeutic options.

In addition to scientific articles, the National Institutes of Health’s ClinicalTrials.gov database provides information about ongoing or completed clinical trials related to multiple sulfatase deficiency. These trials aim to investigate potential treatments, therapies, or interventions for managing or improving the symptoms of the disease.

Overall, the scientific articles available on PubMed and the resources provided by the National Institutes of Health serve as valuable references for researchers, clinicians, patients, and their families. They contribute to the understanding of multiple sulfatase deficiency and support the development of improved diagnostic testing methods and potential treatments for this rare condition.

References

• Formylglycine: Learn more about the scientific development of formylglycine and its role in sulfatase enzymes on PubMed.

• Multiple sulfatase deficiency (MSD): Gain more information about the symptoms, causes, and inheritance of this rare disease from articles on OMIM.

• Ichthyosis, Short Stature, and Mental Retardation (MSDR): Learn about this associated condition caused by deficiency of multiple sulfatases on PubMed.

• Mutations in Sulfatase-Modifying Factor 1 (SUMF1) gene: Find out more about the implications and genetic inheritance of mutations in this gene on OMIM.

• Skeletal dysplasia: Understand the skeletal abnormalities associated with Multiple sulfatase deficiency (MSD) from research articles.

• Clinical trials: Get information about ongoing clinical trials related to Multiple sulfatase deficiency on ClinicalTrials.gov.

• Enzyme replacement therapy: Learn about the potential of enzyme replacement therapy for treating Multiple sulfatase deficiency from the Advocacy Center for Sulfatase and Related Diseases.

• Neonatal and patient testing: Find resources for neonatal and patient testing for Multiple sulfatase deficiency and associated diseases on OMIM.

• Additional genes: Gain insight into other genes and their mutations associated with Multiple sulfatase deficiency from recent studies.

• Support and information: For more information and support regarding Multiple sulfatase deficiency, check sulfatase.org and NTSAD.