Glycogen storage disease type III

Published Categorized as Genetics
Glycogen storage disease type III

Glycogen storage disease type III (GSDIII), also known as Cori disease, is a rare genetic condition that affects the body’s ability to break down glycogen and convert it into glucose. It is classified as an autosomal recessive disorder, meaning that individuals with GSDIII inherit two copies of the mutated gene, one from each parent.

GSDIII is caused by mutations in the AGL gene, which provides instructions for producing the enzyme glycogen debranching enzyme. This enzyme is responsible for breaking down glycogen into glucose, which is used as a source of energy for the body. In individuals with GSDIII, the absence or deficiency of glycogen debranching enzyme leads to the accumulation of glycogen in various tissues, particularly in the liver, muscles, and heart.

The symptoms and severity of GSDIII can vary widely between individuals. Some individuals with GSDIII may have mild symptoms and lead relatively normal lives, while others may experience more severe symptoms and complications, such as liver and heart problems. Common symptoms of GSDIII include muscle weakness, fatigue, enlarged liver, low blood sugar levels, and delayed growth.

Diagnosis of GSDIII is typically done through genetic testing, which can identify mutations in the AGL gene. Other diagnostic tests may include blood tests, liver biopsies, and muscle biopsies to assess the levels of glycogen and the activity of the debranching enzyme. Treatment for GSDIII usually involves managing symptoms through dietary modifications, such as a low-sugar, high-protein diet, and regular monitoring of liver function and blood glucose levels.

As GSDIII is a rare condition, there is limited information and resources available. However, there are several organizations and research centers dedicated to providing support and information for individuals and families affected by GSDIII. Some helpful resources include the Genetic and Rare Diseases Information Center, the Office of Rare Diseases Research, and advocacy groups such as the Association for Glycogen Storage Disease and clinicaltrialsgov, where individuals can find information about ongoing clinical trials and research studies related to GSDIII.

Frequency

Glycogen storage disease type III (GSDIII) is a rare genetic condition with a frequency of approximately 1 in 100,000 to 400,000 individuals worldwide. It is the second most common form of glycogen storage disease. GSDIII is autosomal recessive, which means that both copies of the gene for the condition must be mutated in order for an individual to inherit the disease.

There are two main types of GSDIII: GSDIIIa and GSDIIIb. GSDIIIa is the more common type, accounting for about 85 percent of cases. GSDIIIb is much less common.

GSDIII typically affects muscles and other tissues in the body due to a failure to break down glycogen properly. This can result in symptoms such as muscle weakness, low blood sugar, and an enlarged liver. In some cases, GSDIII can also lead to heart and respiratory problems.

The frequency of GSDIII varies among different populations and ethnic groups. It has been reported in individuals of various ethnic backgrounds, including Caucasians, Asians, and Africans.

Additional information about the frequency of GSDIII can be found in scientific research articles and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. ClinicalTrials.gov is also a valuable resource for information on ongoing clinical studies and trials related to GSDIII.

Genetic testing is available to diagnose GSDIII, and individuals with a family history of the condition or symptoms suggestive of GSDIII should consider genetic testing. Diagnosis may involve DNA analysis to detect mutations in the genes associated with GSDIII.

Support and advocacy groups, such as the Genetic and Rare Diseases Information Center, also provide resources and support for individuals and families affected by GSDIII, offering information, research updates, and opportunities to connect with others facing similar challenges.

Causes

Glycogen storage disease type III (GSD III) is a rare genetic disorder that is caused by mutations in the AGL gene. It is an autosomal recessive disease, which means that individuals inherit two copies of the mutated gene, one from each parent.

The AGL gene provides instructions for making an enzyme called glycogen debranching enzyme. This enzyme is responsible for breaking down glycogen, a complex sugar that is stored in the liver and muscles, into glucose, which is used as a source of energy by the body.

In individuals with GSD III, mutations in the AGL gene result in a deficiency or malfunction of the glycogen debranching enzyme. As a result, glycogen cannot be broken down properly, leading to its accumulation in various tissues, especially the liver and muscles.

The buildup of glycogen in the liver can cause hepatomegaly (enlarged liver) and hepatic dysfunction. In the muscles, glycogen accumulation can lead to weakness, fatigue, and muscle cramps. Other symptoms of GSD III may include hypoglycemia (low blood sugar), growth delay, and cardiomyopathy (heart muscle disease).

GSD III is divided into four subtypes: IIIa, IIIb, IIIc, and IIId. The different subtypes are based on the severity and specific symptoms experienced by individuals with the condition.

The frequency of GSD III varies among populations, but it is estimated to affect approximately 1 in 100,000 to 1 in 300,000 individuals worldwide.

Diagnosis of GSD III involves a combination of clinical symptoms, biochemical testing, and genetic analysis. Additional resources for learning about GSD III and testing centers can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov.

Research studies and scientific articles on GSD III and its causes, inheritance patterns, and associated genes can be found on PubMed and in genetic research catalogs.

Support and advocacy organizations, such as the Association for Glycogen Storage Disease, provide information and support for individuals and families affected by GSD III. They offer resources for learning about the condition, connecting with other patients and families, and finding clinical trials and research studies.

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

Glycogen storage disease type III (GSDIII) is a rare genetic condition that affects the body’s ability to break down glycogen, a stored form of glucose. This condition is caused by mutations in the AGL gene, which provides instructions for the production of the glycogen debranching enzyme.

The glycogen debranching enzyme is responsible for breaking down glycogen into glucose, which can be used by the body for energy. In individuals with GSDIII, mutations in the AGL gene result in a deficiency or dysfunction of this enzyme, leading to the buildup of glycogen in various tissues and organs.

GSDIII can manifest with a range of symptoms and can affect different tissues, including the liver, muscles, and heart. Common symptoms of the condition include liver enlargement, muscle weakness, and cardiomyopathy (heart muscle disease). The severity and frequency of symptoms can vary greatly among affected individuals.

To learn more about the gene associated with GSDIII and the condition itself, various resources are available. The National Center for Advancing Translational Sciences (NCATS) provides information and resources on rare diseases, including GSDIII, on their website. The Online Mendelian Inheritance in Man (OMIM) and PubMed are scientific databases where researchers and healthcare professionals can find additional information and studies related to GSDIII.

In addition, genetic testing is available for GSDIII to confirm a diagnosis and identify the specific mutations in the AGL gene. Genetic testing can help healthcare professionals determine the best course of treatment and management for individuals with GSDIII.

For patients and families affected by GSDIII, support and advocacy organizations can provide valuable information and resources. These organizations can connect individuals with others who have similar experiences, offer support and guidance, and provide updates on the latest research and clinical trials for GSDIII.

Overall, learning more about the gene associated with GSDIII can help individuals affected by this condition gain a better understanding of its genetic basis, the potential symptoms and manifestations, and the available resources and support for managing the condition.

Inheritance

Glycogen storage disease type III (GSDIII), also known as Cori disease, is caused by mutations in the AGL gene. GSDIII is inherited in an autosomal recessive manner, which means that both copies of the gene must have a mutation to cause the disease.

Individuals with GSDIII inherit one mutated copy of the AGL gene from each parent. The AGL gene provides instructions for making an enzyme called glycogen debranching enzyme. This enzyme is responsible for breaking down glycogen, a stored form of glucose, in the body.

In GSDIII, the glycogen debranching enzyme is either missing or not functioning properly. As a result, glycogen builds up in certain tissues, such as the liver, muscles, and heart, leading to the symptoms of the disease.

The inheritance of GSDIII can be supported by genetic testing, which can identify mutations in the AGL gene. Genetic testing can also be helpful for carrier testing and prenatal testing in families with a known history of GSDIII.

See also  CYP27A1 gene

Further information about the inheritance and causes of GSDIII can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide additional information on the genetics, clinical trials, and research studies related to GSDIII.

It is important for individuals with GSDIII and their families to seek support from advocacy groups, such as the GSDIII Support Center, for information, resources, and connections to other individuals and families affected by the disease.

In summary, GSDIII is a rare genetic disease caused by mutations in the AGL gene. It is inherited in an autosomal recessive manner, and genetic testing can be used to confirm the diagnosis. Additional support and information can be obtained from advocacy groups and resources such as OMIM, PubMed, and ClinicalTrials.gov.

Other Names for This Condition

Glycogen storage disease type III (GSDIII) is a rare genetic disorder that affects the way the body stores and uses glycogen. It is also known by other names:

  • Cori disease
  • Glycogen storage disease type 3
  • Glycogen storage disease type IIIa
  • Glycogen storage disease type IIIb
  • Glycogen storage disease type IIID

GSDIII is caused by mutations in the AGL gene, which provides instructions for making an enzyme called glycogen debranching enzyme. This enzyme is responsible for breaking down glycogen in the body’s cells and tissues. Mutations in the AGL gene result in a deficiency or malfunction of the glycogen debranching enzyme, leading to the accumulation of glycogen in various tissues, including the liver, muscles, and heart.

Individuals with GSDIII typically experience symptoms such as muscle weakness, enlarged liver, low blood sugar levels, and heart problems. The severity and range of symptoms can vary greatly between individuals with GSDIII.

Testing for GSDIII is usually done through genetic testing to identify mutations in the AGL gene. Additional testing may be performed to evaluate the level of glycogen debranching enzyme activity in the body.

GSDIII is inherited in an autosomal recessive manner, which means that both parents of an affected individual are carriers of the mutated AGL gene. Each child of carrier parents has a 25 percent chance of inheriting the disease.

Treatment for GSDIII focuses on managing symptoms and preventing complications. This may involve dietary changes, enzyme replacement therapy, and regular monitoring of liver and cardiac function.

Support and advocacy groups, such as the GSDIII Research and Advocacy Center, provide resources and information for individuals and families affected by GSDIII. These organizations may offer educational materials, support networks, and opportunities for participation in research studies and clinical trials.

For more information about GSDIII, including causes, symptoms, and treatment options, you can refer to the following references:

  • Catalog of Genes and Diseases (OMIM): [link to OMIM entry]
  • Genetics Home Reference: [link to Genetics Home Reference]
  • PubMed: [link to PubMed search results]
  • ClinicalTrials.gov: [link to ClinicalTrials.gov]

Additional Information Resources

Genetic Testing Information

Glycogen storage disease type III (GSDIII) is a rare genetic condition that affects the way the body stores and breaks down glycogen, which is the main form of stored glucose. GSDIII is typically caused by mutations in the AGL gene. It is an autosomal recessive condition, which means that individuals must inherit two copies of the mutated gene to develop the disease.

Genetic testing can be used to confirm a diagnosis of GSDIII and identify the specific mutations in the AGL gene. This information can help determine the prognosis, treatment options, and inheritance pattern for the patient.

There are several names for GSDIII, including Cori disease, Forbes disease, and Limit dextrinosis. These names reflect different aspects of the condition and its symptoms.

The AGL gene provides instructions for making the enzyme glycogen debranching enzyme. Mutations in this gene can lead to a deficiency or dysfunction of the enzyme, which impairs glycogen breakdown in various tissues and organs, including the liver, muscles, and heart.

Patients with GSDIII usually experience symptoms related to glycogen accumulation in the liver and muscles, such as hepatomegaly (enlarged liver), muscle weakness, and hypoglycemia (low blood sugar). Other symptoms and their severity can vary widely among individuals with GSDIII.

Genetic testing for GSDIII can be performed by specialized laboratories, genetic testing centers, or research institutions. ClinicalTrials.gov provides information on ongoing clinical trials related to genetic testing for GSDIII. Additionally, studies and scientific articles on genetic mutations associated with GSDIII can be found on PubMed and the Online Mendelian Inheritance in Man (OMIM) database.

Patients and their families can find more information, support, and advocacy resources from organizations dedicated to GSDIII and related glycogen storage diseases. These resources can help individuals and their loved ones navigate the challenges of living with GSDIII and provide information on available treatments, research, and life support options.

In summary, genetic testing is an important tool for diagnosing GSDIII, identifying specific mutations in the AGL gene, and providing valuable information about the condition’s inheritance pattern and associated symptoms. Patients and their families can benefit from learning more about GSDIII through scientific research, clinical trials, and advocacy organizations.

Additional resources for information and support about GSDIII and other glycogen storage diseases can be found through catalogs, research centers, and advocacy organizations dedicated to rare diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information and resources about genetic and rare diseases, including Glycogen Storage Disease Type III (GSDIII). GSDIII, also known as Cori Disease or Forbes Disease, is a rare condition that affects the body’s ability to break down glycogen properly.

GSDIII is caused by mutations in the AGL gene, which is responsible for producing the enzyme glycogen debranching enzyme. These mutations lead to a deficiency or abnormality of the enzyme, resulting in the buildup of glycogen in various tissues and organs, especially the liver, muscles, and heart.

The symptoms of GSDIII can vary widely between individuals but may include fatigue, muscle weakness, low blood sugar, enlarged liver, growth delay, and heart problems. The severity of the condition can also vary, with some individuals having mild symptoms and others experiencing more severe complications.

Diagnosis of GSDIII is typically made through genetic testing, which can detect the specific mutations in the AGL gene. Other diagnostic tests may include blood tests, imaging studies, and muscle biopsies to assess the extent of glycogen buildup in tissues.

There is currently no cure for GSDIII, but management of the condition focuses on treating symptoms and preventing complications. This may include dietary modifications, medication to manage blood sugar levels, and regular monitoring of liver and heart function.

Research studies and clinical trials are ongoing to better understand GSDIII and develop new treatments. The GARD website provides information on current clinical trials related to GSDIII, which can be found on the ClinicalTrials.gov website. Additionally, the GARD website offers a catalog of articles, references, and other scientific resources for further learning.

GSDIII is 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. Carriers of a single mutated gene are usually asymptomatic but can pass the gene on to their children.

The frequency of GSDIII is estimated to be around 1 in 100,000 to 1 in 300,000 births. The condition is more common in certain populations, such as Ashkenazi Jews and individuals of French-Canadian descent.

The GARD website serves as a valuable resource for patients, families, healthcare providers, and researchers interested in genetic and rare diseases. It offers information on various other rare diseases, advocacy and support groups, genetic testing centers, and more.

Patient Support and Advocacy Resources

Living with Glycogen Storage Disease Type IIIa (GSDIIIa) can be challenging, but there are resources available to provide support and advocacy for individuals and families affected by this rare genetic condition.

See also  DBT gene

Support Organizations:

  • Glycogen Storage Disease Alliance – This organization provides information, resources, and support to individuals and families affected by GSDIIIa and other glycogen storage diseases.
  • Muscular Dystrophy Association (MDA) – MDA offers support services, educational resources, and community connections for individuals with GSDIIIa and other related muscle diseases.

Additional Resources:

  • ClinicalTrials.gov – ClinicalTrials.gov provides information on current clinical trials for GSDIIIa and other related diseases. Patients and families can search for trials that may be recruiting participants or gather information about future research opportunities.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM offers a comprehensive catalog of genetic disorders, including GSDIIIa. Patients and families can find information about the genetic causes, symptoms, and inheritance patterns of GSDIIIa.
  • PubMed – PubMed is a database of scientific articles, including research studies and case reports about GSDIIIa. Patients and families can access the latest scientific information and stay updated on advancements in the understanding and treatment of GSDIIIa.

If you or your loved one has been diagnosed with GSDIIIa, it is recommended to consult with a healthcare professional or a specialized center to learn more about the condition, testing options, and available treatment approaches.

Please note that the names GSDIIID, Cori’s disease, and GSDIII are also used to refer to Glycogen Storage Disease Type IIIa. The frequency of this rare condition is estimated to be about 1 in 100,000 individuals. GSDIIIa is usually inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for a child to be affected.

Resources and References:
1. Chen YT, et al. Glycogen storage diseases. In: Valle D, et al., editors. The Online Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill; 2014.
2. Labrune P, et al. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type III. Eur J Pediatr. 2002;161 Suppl 1:S20-S34.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a comprehensive online resource for information on clinical research studies. It provides a database of ongoing and completed clinical trials, including those related to Glycogen storage disease type III (GSDIII).

GSDIII is a rare genetic condition that affects the body’s ability to break down glycogen, a form of stored sugar, into glucose. This leads to the buildup of glycogen in various tissues, including the liver, muscles, and heart. GSDIII is typically caused by mutations in the AGL gene, which provides instructions for producing the enzyme glycogen debranching enzyme.

Research studies listed on ClinicalTrialsgov aim to further understand the causes, symptoms, and treatments for GSDIII. These studies often involve testing new therapies, evaluating the effectiveness of existing treatments, and exploring the genetic basis of the disease.

Some of the research studies listed on ClinicalTrialsgov focus on specific aspects of GSDIII, such as the impact on the heart or muscles. Others investigate the inheritance patterns and genetic mutations associated with different types of GSD, including GSDIII. These studies provide valuable information for medical professionals, researchers, and patients seeking to learn more about this rare condition.

In addition to ClinicalTrialsgov, there are other scientific resources available for information and support related to GSDIII. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed articles on rare genetic diseases, including GSDIII. PubMed, a database of scientific publications, also contains a wealth of research articles and references on GSDIII and related conditions.

Patient advocacy and support organizations can also be valuable resources for individuals and families affected by GSDIII. These organizations often provide information, support, and resources to help patients better understand and manage their condition.

References:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on various genetic conditions. In the context of Glycogen Storage Disease Type III (GSDIII), OMIM offers an extensive database of genes and related diseases associated with this rare condition.

GSDIII, also known as Cori disease or GSDIIIA, is caused by mutations in the AGL gene. This autosomal recessive disorder affects glycogen metabolism in muscles and other tissues, leading to the accumulation of abnormal glycogen and impairing its normal breakdown.

Individuals with GSDIII typically experience symptoms such as muscle weakness, myopathy, and enlarged liver (hepatomegaly). The severity and progression of the disease can vary among affected individuals.

OMIM provides the following information and resources for GSDIII:

  • A comprehensive list of genes associated with GSDIII, including the AGL gene
  • In-depth details on the genetics and inheritance pattern of GSDIII
  • Clinical descriptions of the disease, including its symptoms and associated complications
  • Information on genetic testing and diagnostic procedures for GSDIII
  • Research articles and studies related to GSDIII
  • Additional resources, including patient support and advocacy groups

By accessing OMIM, individuals and healthcare professionals can learn more about GSDIII and stay updated on the latest scientific research and clinical trials. OMIM also provides links to PubMed, a database of scientific articles, for further reading and exploration.

OMIM is an invaluable tool for understanding rare genetic diseases like GSDIII and facilitates collaboration and knowledge-sharing among scientists, researchers, and healthcare providers. The catalog of genes and diseases offered by OMIM supports ongoing research and helps improve the diagnosis, treatment, and management of rare genetic conditions.

Scientific Articles on PubMed

Glycogen storage disease type III, also known as GSDIII or Cori disease, is a rare genetic disorder that affects the metabolism of glycogen. It is classified as a glycogen storage disease, specifically a glycogen storage disease myopathy.

There are multiple types of glycogen storage diseases, each caused by mutations in different genes. GSDIII is typically inherited in an autosomal recessive manner, meaning that both parents need to carry a mutated gene for a child to be affected. The condition is characterized by the buildup of glycogen in various tissues and organs, which can lead to a range of symptoms.

The symptoms of GSDIII can vary from mild to severe and typically manifest in childhood. They may include muscle weakness, delayed growth and development, enlarged liver, low blood sugar, short stature, and heart problems. The severity and specific symptoms can vary between individuals with GSDIII.

Scientific articles about GSDIII can be found on PubMed, a comprehensive database of medical literature. PubMed provides a catalog of references to articles on various topics, including genetic disorders like GSDIII. By searching for keywords such as “GSDIII” or “Glycogen storage disease type III,” researchers can access a wealth of information on the genetic causes, clinical manifestations, and treatment options for GSDIII.

Additional resources for information and support related to GSDIII can be found from advocacy groups, genetic testing centers, and research institutions. These organizations often provide information about the latest research findings, clinical trials, and support services for patients and their families.

It is important for individuals with GSDIII and their families to stay informed about the latest scientific advancements and research in the field. This can help them make more informed decisions about treatment options and improve their quality of life.

Studies have shown that the frequency of GSDIII is relatively low, affecting less than 1 percent of the population. However, more research is needed to fully understand the prevalence and impact of this condition.

Overall, scientific articles on PubMed can provide valuable insights into the genetics, symptoms, and management of glycogen storage disease type III. By staying informed and engaging in ongoing research, healthcare professionals and individuals affected by GSDIII can work together to improve the diagnosis, treatment, and quality of life for individuals with this rare genetic disorder.

References

  • Campbell KP et al. Glycogen storage diseases: overview. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26371/
  • Davis MK et al. Glycogen Storage Disease Type III. 2014 Jan 30 [Updated 2021 Jun 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/
  • “Glycogen Storage Disease Type III”. Genetics Home Reference, U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii
  • “GSD Type III”. Association for Glycogen Storage Disease UK. Available from: https://agsd.org.uk/glycogen-storage-disease/gsd-types/type-3/
  • “Glycogen Storage Disease Type III”. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-iii/
  • Burton BK et al. Glycogen Storage Disease Type III: Genetic and Phenotypic Variation in a Cohort of Patients from the Cystic Fibrosis Glycogen Storage Disease Consortium. J Inherit Metab Dis. 2018 Jan;41(1):35-42. doi: 10.1007/s10545-017-0081-4. Epub 2017 Aug 29. PMID: 28852866; PMCID: PMC5721218.
  • Van Hoof F et al. Genotype–phenotype correlation in patients with glycogen storage disease type III: a multicentre study and review of the literature. J Inherit Metab Dis. 2021;44(4):894-905. doi: 10.1002/jimd.12330. Epub 2020 Dec 18. PMID: 33145949; PMCID: PMC8015766.
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.