Glycogen storage disease type VI

Published Categorized as Genetics
Glycogen storage disease type VI

Glycogen storage disease type VI (GSDVI) is a rare genetic metabolic disorder that affects the body’s ability to break down glycogen, a form of stored sugar in the body. It is classified as an autosomal recessive condition, meaning that both copies of the gene associated with the condition must be mutated for a person to be affected.

Individuals with GSDVI typically have a mild form of the disease and tend to have normal growth and development. However, they may experience symptoms such as low blood sugar, enlarged liver, and, in some cases, growth retardation. The condition is caused by mutations in the PYGL gene, which is responsible for producing an enzyme called glycogen phosphorylase. The deficiency of this enzyme leads to the abnormal accumulation of glycogen in certain tissues.

Diagnosis of GSDVI is often done through genetic testing, which can identify mutations in the PYGL gene. Additional tests such as liver biopsies or blood tests may also be conducted to confirm the diagnosis or assess the severity of the condition.

There is currently no cure for GSDVI, but treatment options focus on managing symptoms and preventing complications. This can include dietary interventions such as a regimen of complex carbohydrates or frequent small meals to regulate blood sugar levels. Regular monitoring by a healthcare professional is also necessary to ensure proper management of the condition.

GSDVI is a rare condition, and there is limited information available about its frequency in the general population. Resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, the Genetic and Rare Diseases Information Center (GARD), and clinicaltrialsgov provide more information on the condition and ongoing research studies.

Advocacy and support groups such as the GSDVI Center for Action, Research, and Advocacy (GSDVI-CARA) offer resources and support for individuals and families affected by GSDVI. Scientific articles and research papers published in journals and databases such as PubMed can also provide additional information on the condition and ongoing research studies.

Overall, Glycogen storage disease type VI is a rare condition that affects the body’s ability to break down glycogen. More research is needed to further understand the causes, inheritance patterns, and potential treatment options for this condition.

Frequency

Glycogen storage disease type VI (GSDVI), also known as Hers disease, is a rare genetic condition caused by a deficiency of the enzyme liver phosphorylase. The exact frequency of GSDVI is not well documented, but it is considered to be one of the less common types of glycogen storage diseases.

Studies on the frequency of GSDVI are limited, and the condition is often underdiagnosed or misdiagnosed. The lack of awareness and knowledge about GSDVI may contribute to its low reported frequency. However, with advances in genetic testing and increased awareness, more cases of GSDVI are being identified.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, GSDVI is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the gene mutation for their child to inherit the condition.

The symptoms of GSDVI can vary in severity, but most affected individuals have mild symptoms. The most common symptoms include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), and poor growth.

There are currently no specific treatments for GSDVI, but management strategies focus on maintaining a balanced diet and preventing hypoglycemia. Regular monitoring of blood sugar levels and liver function is important for individuals with GSDVI.

For more information about GSDVI, its causes, and associated symptoms, you can refer to scientific articles available on PubMed or the Genetic and Rare Diseases Information Center (GARD). These resources provide additional references and research studies on GSDVI.

In conclusion, GSDVI is a rare genetic condition characterized by a deficiency of the enzyme liver phosphorylase. The exact frequency of GSDVI is not well known, but it is considered to be less common compared to other glycogen storage diseases. Further research and genetic studies are needed to determine the exact prevalence of GSDVI.

Causes

Glycogen storage disease type VI (GSDVI) is caused by a deficiency of the enzyme glycogen phosphorylase. The gene responsible for encoding this enzyme is known as PYGL. Mutations in the PYGL gene result in a decrease or complete absence of glycogen phosphorylase activity, leading to the accumulation of glycogen in various tissues.

Glycogen storage diseases are a group of rare genetic disorders that affect the body’s ability to break down and utilize glycogen, which is a stored form of sugar that provides energy. GSDVI is a relatively mild form of glycogen storage disease, with symptoms typically appearing in childhood.

The frequency of GSDVI varies among different populations, but it is generally considered to be a rare disease. Inheritance of GSDVI follows an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated PYGL gene (one from each parent) to develop the disease.

Additional research is being conducted to better understand the genetic causes and inheritance patterns of GSDVI. The ClinicalTrials.gov and OMIM databases provide more information on ongoing studies and the associated genes.

Genetic testing can be performed to confirm a diagnosis of GSDVI. This involves analyzing the PYGL gene for mutations that are known to cause the disease. Testing may also be available for other genes that are associated with glycogen storage diseases.

Patients with GSDVI may benefit from support and advocacy resources, such as the Center for Research on Glycogen Storage Diseases and the Hers Foundation. These organizations provide information, scientific articles, and references on GSDVI and other glycogen storage diseases. They also offer support for patients and their families.

Learn more about GSDVI and related glycogen storage diseases by exploring resources such as PubMed and the catalog of genes and diseases (Genetic and Rare Diseases Information Center).

Learn more about the gene associated with Glycogen storage disease type VI

Glycogen storage disease type VI (GSD VI), also known as Hers’ disease, is a rare genetic condition characterized by a deficiency of the enzyme glycogen phosphorylase. This deficiency causes an abnormal accumulation of glycogen in the liver, resulting in various clinical symptoms and complications.

The gene associated with GSD VI is called the PYGL gene, which provides instructions for making the glycogen phosphorylase enzyme. Mutations in this gene can impair the function of the enzyme, leading to the symptoms of GSD VI.

Frequency: GSD VI is considered a rare condition, with an estimated incidence of around 1 in 65,000 to 85,000 individuals worldwide.

Inheritance: GSD VI is typically inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The GeneReviews catalog on the National Library of Medicine’s website (PubMed) provides more information on the PYGL gene and GSD VI. It includes clinical descriptions, recommended testing strategies, and other relevant information for healthcare providers and researchers.

Additional research articles, clinical trials, and genetic testing information can be found on PubMed and ClinicalTrials.gov, supporting scientific research and advancements in the understanding and management of GSD VI.

GSD VI may present with a wide range of symptoms, from mild and manageable to severe and life-threatening. This variability in symptoms is partially due to the different mutations in the PYGL gene and other genetic and environmental factors.

Resources such as the Genetic and Rare Diseases Information Center (GARD) and patient advocacy organizations can provide further support and information for individuals and families affected by GSD VI.

Learn more about GSD VI, the associated gene PYGL, and related conditions through scientific research, genetic testing, and reliable resources like OMIM (Online Mendelian Inheritance in Man) and the Journal of Inherited Metabolic Disease (JIMD).

References:

  1. Chen YT, Cornblath M, Sidbury JB. Glycogen Storage Diseases. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic & Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2013. Accessed November 2, 2021. Available from: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225168522
  2. PYGL gene. Genetics Home Reference. National Library of Medicine. Accessed November 2, 2021. Available from: https://ghr.nlm.nih.gov/gene/PYGL
  3. Glycogen storage disease type VI. Genetics Home Reference. National Library of Medicine. Accessed November 2, 2021. Available from: https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

Inheritance

Glycogen storage disease type VI (GSDVI) is a genetic disorder that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disease.

See also  CHRNA4 gene

The specific gene associated with GSDVI is known as the PYGL gene, which provides instructions for the production of an enzyme called glycogen phosphorylase. This enzyme plays a crucial role in breaking down glycogen, a complex sugar molecule that serves as a stored form of energy in the body.

Individuals with GSDVI have a deficiency in glycogen phosphorylase, which leads to the accumulation of glycogen in tissues such as the liver and muscles. This abnormal storage of glycogen can cause a range of symptoms, including mild to severe liver enlargement, low blood sugar, and muscle weakness.

Genetic testing is typically used to diagnose GSDVI. The testing usually involves analyzing the PYGL gene for mutations or changes that are known to cause the disease. However, in some cases, additional testing may be necessary to confirm the diagnosis.

GSDVI is considered a rare disease, with a frequency of approximately 1 in 100,000 births. The disease is found in all ethnic groups and affects both males and females equally.

If you or your child has been diagnosed with GSDVI, it is important to seek support and information. Patient advocacy groups, such as the GSDVI Support Center, can provide resources and connect you with others who are dealing with the same condition.

Research studies and clinical trials are ongoing to learn more about the causes and treatment of GSDVI. For more information about current research and clinical trials, you can visit websites such as ClinicalTrials.gov, PubMed, and OMIM.

References:

Other Names for This Condition

Glycogen storage disease type VI may also be known by the following names:

  • Hers disease
  • GSDVI
  • Type VI glycogen storage disease
  • Glycogen storage disease type 6
  • Glycogen storage disease type VIa
  • Pyruvate dehydrogenase complex deficiency
  • Glycogen storage disease with deficient glycogen synthase

This condition has been found to be associated with variants in the PYGL gene. Inheritance is autosomal recessive, which means that an individual must inherit two copies of the altered gene to develop this condition. It tend to have a mild clinical course, with normal growth and development. However, some individuals may experience symptoms such as hypoglycemia (low blood sugar), hepatic enlargement (enlargement of the liver), and hepatic adenomas (benign tumors of the liver).

To learn more about glycogen storage disease type VI, you can visit the following resources:

The International Advocacy and Support Center for Glycogen Storage Disease offers support, advocacy, and resources for patients and families affected by glycogen storage diseases. To find more information, you can visit their website.

Additional Information Resources

The following resources provide additional information on Glycogen Storage Disease Type VI:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides resources for patients and their families to learn more about rare genetic conditions. They offer information about the causes, inheritance, frequency, and clinical characteristics of Glycogen Storage Disease Type VI. Visit their website at https://rarediseases.info.nih.gov/diseases/3881/glycogen-storage-disease-type-vi.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Glycogen Storage Disease Type VI, including the associated genes and their functions. Visit their website at https://www.omim.org/entry/232700.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies. It provides information about ongoing and completed clinical trials related to Glycogen Storage Disease Type VI. Patients and their families can find more information about research studies and opportunities to participate. Visit their website at https://clinicaltrials.gov/ct2/results?cond=Glycogen+Storage+Disease+Type+VI.
  • PubMed – PubMed is a database of scientific articles. It contains published studies and research papers on Glycogen Storage Disease Type VI. Patients and their families can access more scientific information about the condition and its management. Visit their website at https://pubmed.ncbi.nlm.nih.gov/?term=Glycogen+Storage+Disease+Type+VI.
  • Glycogen Storage Disease Type VI Advocacy and Support Organizations – Various advocacy and support organizations exist to provide resources, support, and community for patients and families affected by Glycogen Storage Disease Type VI. Examples include The Association for Glycogen Storage Disease and The Children’s Fund for Glycogen Storage Disease Research. Visit their websites for more information.

These resources can provide more information on the causes, clinical characteristics, testing, and management of Glycogen Storage Disease Type VI.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Glycogen Storage Disease Type VI (GSDVI). This rare genetic disorder is characterized by an inherited deficiency of the enzyme phosphorylase. GSDVI is typically mild and causes disruptions in the body’s ability to store and release sugar from glycogen, resulting in abnormal glycogen storage in certain tissues.

Genetic testing for GSDVI involves the analysis of the PYGL gene, which is associated with this disease. Mutations in the PYGL gene lead to a deficiency in the phosphorylase enzyme, causing the symptoms and abnormalities observed in individuals with GSDVI. Genetic testing can confirm the presence of these mutations and provide a definitive diagnosis.

Advances in genet testing have made it more accessible and accurate. The development of targeted gene sequencing and next-generation sequencing techniques has allowed for more efficient and comprehensive analysis of genes associated with rare diseases like GSDVI. This has enabled healthcare professionals to better understand the underlying genetic factors and inheritance patterns of the disease.

In addition to genetic testing, further clinical studies and research are ongoing to learn more about GSDVI and its impact on affected individuals. These studies involve patient advocacy groups, support centers, and research institutions aiming to gather more scientific information about the disease and its management.

For more information on GSDVI and genetic testing, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders, including information on GSDVI and associated genes.
  • PubMed – A database of scientific articles and research papers. Searching for “GSDVI genetic testing” can provide more specific information on the latest research in this field.
  • ClinicalTrials.gov – A registry of clinical trials investigating new treatments and interventions for various diseases, including GSDVI. This resource provides information on ongoing studies and potential participation opportunities.
  • GSDVI Patient Support Centers – These support centers offer guidance, resources, and advocacy for individuals and families affected by GSDVI. They can provide additional information on genetic testing and connect individuals with healthcare professionals specializing in this disease.
  • References – Consult the reference section of scientific articles and research papers on GSDVI for further reading and more in-depth information on the topic.

By utilizing genetic testing information and collaborating with advocacy groups, support centers, and research institutions, healthcare professionals can improve the diagnosis and management of GSDVI, ultimately enhancing the quality of life for children and individuals with this rare disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. GARD provides the public with access to reliable information about genetic and rare diseases.

Glycogen storage disease type VI (GSDVI), also known as Hers disease, is a rare genetic condition that affects the storage and release of sugar in the body. It is caused by a deficiency in the enzyme glycogen phosphorylase (PYGL).

PYGL deficiency leads to the abnormal accumulation of glycogen in certain tissues, particularly the liver. This can cause mild to moderate symptoms in affected individuals, including hepatomegaly (enlarged liver), low blood sugar, and growth delay.

This condition is typically found in children, and the severity of symptoms can vary among individuals. Some patients may have no symptoms at all and may not be diagnosed until later in life.

GARD provides information on the genetics of GSDVI, including inheritance patterns and the specific gene associated with this condition. The center also offers resources for patients and families, including support and advocacy groups and information about clinical trials and research studies.

For more information about GSDVI, you can visit GARD’s webpage on this condition. Click here to learn more.

References:

  • Genetics Home Reference, the Genetics and Rare Diseases Information Center (GARD).
  • Online Mendelian Inheritance in Man (OMIM).
  • PubMed, a database of scientific articles.

Patient Support and Advocacy Resources

Glycogen storage disease type VI (GSDVI) is a rare genetic condition that causes a deficiency in the enzyme glycogen phosphorylase, leading to abnormal storage of glycogen in the body. This condition typically affects children, and the severity can vary from mild to severe.

If you or someone you know has been diagnosed with GSDVI, it is important to have access to accurate and reliable resources for patient support and advocacy. Here are some resources that can provide additional information, support, and guidance:

  1. National Organization for Rare Disorders (NORD): NORD is an advocacy organization that provides resources and support for individuals and families affected by rare diseases. Their website offers information about GSDVI, including its causes, symptoms, diagnosis, and treatment options.
  2. Genetic and Rare Diseases Information Center (GARD): GARD is a centralized resource that provides information about genetic and rare diseases. Their website offers in-depth information about GSDVI, including inheritance patterns, genetic testing, and available treatment options.
  3. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes detailed information about the genes and genetic variations associated with GSDVI, as well as references to scientific studies and articles.
  4. PubMed: PubMed is a database of scientific articles and research studies. By searching for “GSDVI” or “glycogen storage disease type VI” on PubMed, you can find a wide range of scientific papers and studies about the condition, its causes, and its management.
  5. ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and research studies. By searching for “GSDVI” on ClinicalTrials.gov, you can find information about any current studies or trials that may be relevant to the condition.
See also  ETFDH gene

By utilizing these resources, you can learn more about GSDVI, stay up to date with the latest research and treatment options, and connect with other individuals and families affected by this condition. Remember, support and advocacy are important in managing a rare disease like GSDVI, and these resources can provide the knowledge and support you need.

Research Studies from ClinicalTrials.gov

Research studies on Glycogen Storage Disease Type VI (GSDVI) are being conducted to further understand this rare genetic condition. GSDVI, also known as Hers disease or PYGL deficiency, is caused by a mutation in the PYGL gene which leads to the inability to break down glycogen into glucose.

This condition is typically mild, with symptoms such as low blood sugar levels, growth delay, and an inability to tolerate long periods without food. It is inherited in an autosomal recessive pattern, meaning that both parents must carry the faulty gene for their child to inherit the disease.

Research studies aim to gather more scientific information about this condition, including its causes, frequency, and inheritance patterns. ClinicalTrials.gov is a valuable resource for finding ongoing and completed studies related to GSDVI and other rare diseases.

Advocacy groups and patient support organizations provide additional resources and information about GSDVI. They may provide guidance on genetic testing, treatment options, and lifestyle management for individuals with the condition.

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

  • ClinicalTrials.gov: This website provides a catalog of research studies on GSDVI and other diseases. You can find additional information about ongoing clinical trials and their objectives.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information about the genetic basis of inherited diseases. It contains references to scientific articles and genetic testing resources related to GSDVI.
  • PubMed: This online database contains scientific articles and publications about GSDVI. You can search for specific topics or browse through the available articles to learn more about this condition.

Children with GSDVI may require monitoring and management to ensure their blood sugar levels remain within a normal range. With proper care, individuals with GSDVI can lead healthy lives.

Research studies and clinical trials are crucial for advancing our understanding of GSDVI and developing new treatment options for affected individuals. By participating in these studies, patients and their families can contribute to the scientific knowledge and potentially benefit from new advancements in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic diseases, including Glycogen Storage Disease Type VI (GSDVI) and other rare genetic conditions. OMIM, also known as Online Mendelian Inheritance in Man, is a database that provides scientific and clinical information about genetic disorders and the associated genes.

Glycogen Storage Disease Type VI, also known as Hers disease, is a rare inherited condition caused by a deficiency in the enzyme glycogen phosphorylase, which is responsible for breaking down glycogen into glucose. This deficiency leads to an abnormal accumulation of glycogen in various tissues, particularly in the liver.

Patients with GSDVI typically have mild symptoms and tend to have normal growth and development. However, they may experience episodes of hypoglycemia (low blood sugar) and hepatomegaly (enlarged liver). Additional symptoms may include ketosis (high levels of ketones in the blood), hyperlipidemia (high levels of lipids in the blood), and growth retardation.

To diagnose GSDVI, genetic testing is typically performed to identify mutations in the PYGL gene, which is responsible for producing glycogen phosphorylase. This genetic testing can confirm the diagnosis and help differentiate GSDVI from other glycogen storage diseases.

There is currently no cure for GSDVI, but treatment aims to manage symptoms and prevent complications. This may include a carefully controlled diet, frequent meals and snacks to maintain blood sugar levels, and avoidance of fasting or strenuous exercise. Regular monitoring of liver function and blood glucose levels is also recommended.

For further information about GSDVI and other genetic diseases, the OMIM website provides access to scientific articles, clinical studies, genetic testing resources, and advocacy organizations for support. The frequency of GSDVI is rare, with a prevalence estimated at 1 in 100,000 individuals.

References to scientific articles on GSDVI and related topics can be found on PubMed, a database of biomedical literature. These references provide additional information on the causes, symptoms, inheritance patterns, and management of this condition.

Additional resources for patients and their families can be found on clinicaltrialsgov, a database of ongoing clinical trials, as well as advocacy organizations dedicated to supporting individuals with rare genetic diseases like GSDVI.

Scientific Articles on PubMed

Glycogen storage disease type VI (GSDVI) is a rare genetic condition associated with a deficiency of the liver isoform of glycogen phosphorylase, also known as PYGL. In order to learn more about this condition, scientific articles can be found on PubMed, a valuable resource for medical research.

PubMed is a database that provides access to a wide range of scientific articles and research studies. It contains information about various genetic diseases, including GSDVI. By searching for the keywords “glycogen storage disease type VI” or “GSDVI” on PubMed, patients, clinicians, and researchers can access scientific articles to learn more about the causes, inheritance patterns, clinical presentation, and management of this condition.

Scientific articles on PubMed can provide valuable information about the condition, including its genetic basis, associated symptoms, testing methods, and available treatment options. They can also provide additional resources and references for further reading.

It is important to note that GSDVI is typically a mild form of glycogen storage disease and may not always exhibit symptoms. However, individuals with GSDVI may still face challenges associated with managing their condition, such as maintaining normal blood sugar levels and preventing the build-up of excess glycogen in the liver.

In addition to scientific articles, PubMed also provides access to information about ongoing clinical trials related to GSDVI. This can be helpful for patients and clinicians who are interested in participating in or referring patients to these studies.

Overall, PubMed is a valuable resource for accessing scientific articles and research studies related to glycogen storage disease type VI. It provides information about the genetic basis, clinical presentation, and management of this condition, and can support patients, clinicians, and researchers in their efforts to learn more about GSDVI.

References:

References

For more information about rare genetic diseases and additional resources, the following websites can be useful:

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.