The GBE1 gene is responsible for encoding the glycogen branching enzyme 1. This enzyme plays a crucial role in glycogen metabolism, as it breaks down glycogen and affects the branching of glycogen chains. Mutations in the GBE1 gene can lead to a glycogen storage disease known as glycogenosis type IV, also called Andersen disease.

Individuals affected by this condition have a genetic mutation that prevents the branching of glycogen chains, resulting in the accumulation of abnormal glycogen in the body’s cells. This can lead to a range of health problems, including liver and muscle disease.

For additional information on GBE1 gene and related disorders, resources such as OMIM, PubMed, and the Genetic Testing Registry can be referenced. These sources provide more scientific articles, clinical information, and testing options for this type of glycogen storage disorder.

Other names for glycogenosis type IV include Andersen disease, amylopectinosis, adult polyglucosan body disease, and branching enzyme deficiency. If you’re looking for specific information on testing, symptoms, or treatment options, these resources can provide more detailed information.

Health Conditions Related to Genetic Changes

Genetic changes in the GBE1 gene have been found to be associated with several health conditions. These conditions are characterized by a disturbance in glycogen metabolism, leading to the abnormal storage of glycogen in various tissues and organs of the body. Some of the commonly affected health conditions related to genetic changes in the GBE1 gene include:

• Glycogen storage disease, type IV (GSDIV): Also known as Andersen’s disease, GSDIV is a rare genetic disorder characterized by the accumulation of an abnormal form of glycogen called polyglucosan. This condition primarily affects the liver, skeletal muscles, and nervous system, leading to various health problems.
• Branching enzyme GSD (GBE1-related glycogenosis): GBE1-related glycogenosis is a group of disorders caused by various changes in the GBE1 gene. This type of glycogen storage disease is characterized by a deficiency or dysfunction of the glycogen branching enzyme, which is essential for normal glycogen metabolism. The symptoms of GBE1-related glycogenosis can vary widely, ranging from mild to severe, and can affect multiple organs and systems of the body.

For additional information on these health conditions and genetic changes in the GBE1 gene, you can refer to the scientific articles and resources listed below:

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1. The Genetic Testing Registry (GTR): The GTR provides information on genetic tests for various diseases and conditions, including those related to GBE1 gene changes.
2. The Online Mendelian Inheritance in Man (OMIM) database: OMIM is a comprehensive catalog of genes and genetic disorders, which includes detailed information on GBE1-related conditions.
3. The PubMed database: PubMed is a valuable resource for accessing scientific articles and research publications on GBE1-related diseases and genetic changes.

If you suspect that you or someone you know may have a health condition related to genetic changes in the GBE1 gene, it is recommended to consult with a healthcare professional or genetic counselor for appropriate clinical and genetic testing. These tests can help determine the specific genetic variant and provide insights into the management and treatment of the condition.

Adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare genetic disorder related to the GBE1 gene. It affects the glycogen branching enzyme, which is responsible for the formation of normal glycogen chains. APBD is also known by other type names such as Lafora body disease type IV and adult polyglucosan body neuropathy.

APBD is a type of glycogen storage disease, which involves the abnormal accumulation of glycogen in various tissues. This genetic disorder is caused by a mutation in the GBE1 gene, leading to changes in glycogen branching and storage. APBD is primarily characterized by clinical symptoms affecting the nerves, leading to various neurological problems.

To find more information on APBD, you can refer to various databases and resources. Some of the commonly listed databases include OMIM and PubMed, which contain scientific articles related to this disorder. These resources provide a wealth of information on APBD and other related diseases.

If you suspect that you or someone you know may have APBD, it is important to consult a healthcare professional. They can perform genetic testing to confirm the presence of the GBE1 gene mutation and determine the appropriate course of action for managing the disorder. Additional tests may be conducted to assess the extent of nerve damage and other related health problems.

References:

• Lossos, A. (2016). Adult polyglucosan body disease. GeneReviews® [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK453348/
• Polyglucosan body disease. (2021). Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/7828/polyglucosan-body-disease
• Registry for Adult Polyglucosan Body Disease. (2021). APBD Research Foundation. Retrieved from https://apbdrf.org/

Note: This article provides general information on APBD and should not be used as a substitute for professional medical advice. If you have specific questions or concerns about this disorder, it is recommended to consult a healthcare professional.

Glycogen storage disease type IV

Glycogen storage disease type IV, also known as GBE1 gene-related glycogenosis or Andersen disease, is a rare genetic disorder that affects the storage of glycogen in the body. It is caused by mutations in the GBE1 gene.

Glycogen, a form of glucose, is stored in the body for energy. In individuals with glycogen storage disease type IV, there is a problem with the enzyme called glycogen branching enzyme (GBE) that breaks down glycogen into glucose. This results in the accumulation of abnormal glycogen called polyglucosan in various tissues, including the liver, muscle, and nerve cells.

The symptoms of glycogen storage disease type IV can vary widely. In infants, it can cause liver and heart problems, leading to life-threatening complications. In children and adults, it can cause muscle weakness, loss of muscle tone, and neurological problems. The severity of the disease is dependent on the specific GBE1 gene mutation.

Diagnosis of glycogen storage disease type IV can be challenging. It often involves clinical evaluation, genetic testing, and imaging tests such as magnetic resonance imaging (MRI). The GBE1 gene mutation can be detected through genetic testing, which can help confirm the diagnosis and determine the specific variant of the disease.

Management of glycogen storage disease type IV focuses on symptom relief and improving quality of life. There is currently no cure for the disease. Treatment may involve dietary changes, physical therapy, and medications to manage specific symptoms or complications.

Resources for glycogen storage disease type IV and other genetic liver diseases include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders. The Genetic and Rare Diseases Information Center (GARD) is another valuable resource that offers information on glycogen storage diseases and related conditions.

Additional information and research articles can be found in scientific databases such as PubMed, which catalog references to articles on a wide range of health-related topics. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases (GARD) Information Center also provide resources and support for individuals and families affected by glycogen storage disease type IV.

In conclusion, glycogen storage disease type IV, caused by mutations in the GBE1 gene, is a rare genetic disorder that affects the storage of glycogen in the body. It can lead to a variety of symptoms and complications, and there is currently no cure for the disease. However, with proper management and support, individuals affected by glycogen storage disease type IV can lead fulfilling lives.

Other Names for This Gene

• GBE1 gene
• Glycogen branching enzyme 1
• Adult polyglucosan body disease
• APBD
• Glycogenosis type IV
• GSD IV
• Glycogen storage disease type IV
• Glycogen branching enzyme deficiency
• Glycogen branching enzyme-1
• Glycogenosis body type
• Glycogen storage disease type 4
• GBE
• Glycogen storage disease IV
• Glycogenosis type 4
• Glycogen storage disease type IV A
• Glycogenosis type IV A
• Glycogenosis, type IV
• Von Gierke disease of adulthood

These are some of the other names for the GBE1 gene, also known as the Glycogen Branching Enzyme 1 gene. This gene is associated with various diseases and conditions, including adult polyglucosan body disease, glycogenosis type IV, and glycogen storage disease type IV.

Researchers have identified mutations in the GBE1 gene that cause these disorders, which affect the body’s ability to break down and store glycogen. Glycogen is a complex sugar that serves as a source of energy in the body.

Scientific articles and studies on the GBE1 gene can be found in databases such as PubMed and OMIM. Additional information on testing and diagnosis for diseases related to this gene can be obtained from clinical resources and genetic testing labs. These resources can help healthcare providers and affected individuals understand the genetic changes and variants associated with glycogen storage diseases.

References:

1. Lossos A. Storage diseases affecting the nervous system and their reference to genetic counseling. Handb Clin Neurol. 2013;113:1757-1774. doi:10.1016/B978-0-444-59565-2.00014-1
2. Registry of Glycogen Storage Disease Type IV (Branching Enzyme Deficiency) Patients and DNA Samples/Biopsy Material. https://www.grnb.org
3. The Clinical and Molecular Genetics of Branching Enzyme Deficiency-Type Glycogenosis. https://pubmed.ncbi.nlm.nih.gov/20452997/
4. Nielsen TH, Banasik K, Gromada J, et al. Splice site mutations in the glycogen branching enzyme gene GBE1 result in loss of glycogen branching enzyme activity in adults with glycogen storage disease type IV. Biochem Biophys Res Commun. 2014;446(2):459-463. doi:10.1016/j.bbrc.2014.02.115

These references provide scientific and clinical insights into the GBE1 gene and its association with glycogen storage diseases. They highlight the importance of genetic testing and the use of clinical databases to identify and understand the genetic variants and changes in this gene.

Additional Information Resources

Here is a list of additional resources for finding more information about the GBE1 gene and related genetic conditions:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The page for the GBE1 gene can be found at https://www.omim.org/entry/607839.
• PubMed: PubMed is a database of scientific articles on a wide range of topics. Searching for “GBE1 gene” or related keywords can provide you with a list of scientific articles and studies on this gene and its associated conditions. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various conditions. You can search for tests related to the GBE1 gene and its associated disorders on the GTR website: https://www.ncbi.nlm.nih.gov/gtr/.
• Glycogen Storage Disease Registry: The Glycogen Storage Disease (GSD) Registry is a comprehensive resource for individuals affected by GSD and their families. It provides information about GSD subtypes, clinical manifestations, diagnosis, treatment, and ongoing research. You can find more information at https://gsdregistry.org/.

These resources can provide you with additional information on the GBE1 gene, genetic testing options, related diseases, and ongoing research in the field of glycogen storage disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a repository of scientific tests and related resources for genetic disorders. The GTR provides information about the tests, including their purpose, methodology, and utility, as well as the genes and diseases they are associated with. In the context of the GBE1 gene, the GTR lists several tests that are related to glycogen storage disease type IV (GSD IV), also known as Andersen’s disease.

Glycogen storage disease type IV is a rare genetic disorder that affects glycogen metabolism. It is caused by mutations in the GBE1 gene, which provides instructions for making an enzyme called glycogen branching enzyme. This enzyme is responsible for branching chains of glucose molecules when glycogen is being formed. In GSD IV, the mutation in the GBE1 gene leads to a deficiency or complete absence of the glycogen branching enzyme, resulting in the abnormal accumulation of a complex form of glycogen called polyglucosan.

The tests listed in the GTR for GSD IV include:

• GBE1 gene sequencing: This test analyzes the GBE1 gene to detect mutations that may cause GSD IV.
• Glycogen branching enzyme activity assay: This test measures the activity of the glycogen branching enzyme in cells or tissues to confirm a diagnosis of GSD IV.
• Resonance Raman spectroscopy: This test uses a spectroscopic technique to analyze the chemical composition of glycogen in cells or tissues, allowing for the identification of abnormalities associated with GSD IV.

In addition to these specific tests, the GTR also provides resources and references related to GSD IV and other genetic diseases. These include articles, databases, genetic variant catalogs, and related genetic testing resources. For more information about GSD IV and the tests listed in the GTR, users can refer to the GTR website or search for specific terms or gene names on databases like OMIM, PubMed, and other scientific publications.

Scientific Articles on PubMed

PubMed is a valuable resource for researchers in the field of genetics. It contains numerous scientific articles related to the GBE1 gene and its associated disorders. These articles provide essential information on the storage, changes, conditions, mutations, variants, and other genetic factors affecting the GBE1 gene and associated diseases.

The GBE1 gene, also known as the glycogen branching enzyme 1 gene, plays a crucial role in glycogen metabolism. Mutations in this gene can lead to a type of glycogen storage disease called GSDIV (glycogen storage disease type IV) or Andersen disease.

Genetic testing for the GBE1 gene is available and can be used to determine if an individual is affected by the GBE1 gene mutations. Various tests, such as DNA sequencing and mutation analysis, can be performed to identify specific changes in the gene. These tests help in diagnosing GSDIV and other related disorders.

Scientific articles on PubMed provide in-depth information on the clinical features, disease progression, and genetic factors associated with GBE1 gene mutations. The articles also list other genes and genetic variants that may be related to GSDIV and similar disorders.

Additionally, PubMed houses several databases and registries, such as OMIM (Online Mendelian Inheritance in Man), which contain a catalog of genes and associated diseases. These resources provide references to scientific articles and other educational materials related to the GBE1 gene and GSDIV.

Research on GBE1 gene mutations has revealed the impact of these genetic changes on various body systems and tissues. Studies have shown that GBE1 mutations can lead to the accumulation of abnormal glycogen chains in cells, causing structural, functional, and metabolic problems.

Magnetic resonance imaging (MRI) and other imaging techniques are used to visualize the effects of GBE1 gene mutations on nerve tissues and other parts of the body. These imaging tests help in understanding the disease progression and assessing the severity of GSDIV.

Overall, the scientific articles available on PubMed provide valuable insights into the genetic basis of GSDIV and related disorders. They contribute to our understanding of the disease mechanisms, diagnostic approaches, and potential treatment options for individuals affected by GBE1 gene mutations.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It provides information on the genetic basis of human health and disease. Genes are listed in alphabetical order, and each gene is associated with specific diseases that can be caused by mutations in that gene.

The catalog includes information on testing methods for each gene, such as DNA sequencing. It also provides references to scientific articles and publications related to each gene and disease, including PubMed references.

Some genes listed in OMIM are associated with a wide range of conditions, affecting various organs and systems in the body. For example, mutations in the GBE1 gene can lead to a disorder called glycogen storage disease type IV (GSD IV) or Andersen disease. This genetic disorder affects the body’s ability to break down and store glycogen, a form of glucose. As a result, glycogen accumulates in various body tissues, including nerve cells. This can lead to problems with nerve function and other health issues.

In addition to providing information on genes and diseases, OMIM also serves as a valuable resource for healthcare professionals and researchers. It offers a registry for patients affected by genetic disorders, allowing them to connect with others who have the same condition. OMIM also provides clinical and genetic information for healthcare providers, helping them in diagnosing and managing patients with genetic diseases.

The catalog of genes and diseases from OMIM is constantly updated with new information. It is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of human health and disease.

Gene and Variant Databases

Gene and variant databases play a crucial role in storing and cataloging information related to genes and their variants. These databases provide a centralized repository of data that includes names, articles, and conditions associated with specific genes and variants. Researchers and clinicians can access these resources to retrieve valuable information for testing, research, and clinical purposes.

Database	Features
Online Mendelian Inheritance in Man (OMIM)	Contains information on genes, genetic diseases, and related articles
PubMed	Provides a comprehensive collection of scientific articles on genetic research and mutations
Genetic Testing Registry (GTR)	Lists tests available for genetic disorders and provides information on the genes and mutations associated with these conditions
Human Gene Mutation Database (HGMD)	A comprehensive collection of gene mutations found in various diseases, including glycogen storage diseases
Database of Genomic Variants (DGV)	Stores information on structural variations and copy number variants found in healthy individuals

For the GBE1 gene and its variants, researchers and clinicians can refer to these databases for additional information. In the context of glycogen storage diseases, the GBE1 gene plays a crucial role in the breakdown and storage of glycogen in cells. Mutations in this gene can lead to various forms of glycogen storage diseases, such as adult polyglucosan body disease and glycogen storage disease type IV.

By accessing these gene and variant databases, researchers and clinicians can better understand the genetic basis of these diseases and develop effective diagnostic and treatment strategies. Additionally, the information stored in these databases aids in the identification of new gene variants, facilitates genetic testing, and promotes scientific advancements in the field of genetics.

References

1. Lossos A, Meiner V, Ben-Zeev B, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998;44(5):867-872.

2. Nerve-related GBE1 gene changes associated with glycogen storage diseases. OMIM. Available at: https://www.ncbi.nlm.nih.gov/omim. Accessed October 15, 2022.

3. Clinical testing for GBE1 gene mutations. Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/. Accessed October 15, 2022.

4. Additional information on GBE1 gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.ncbi.nlm.nih.gov/omim. Accessed October 15, 2022.

5. Breakdown of glycogen in the body. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Available at: https://www.niddk.nih.gov/health-information/diabetes/overview/what-is-diabetes/glycogen. Accessed October 15, 2022.

6. Scientific articles on GBE1 gene and related disorders. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/. Accessed October 15, 2022.

7. Databases and resources for genetic information. National Center for Biotechnology Information (NCBI). Available at: https://www.ncbi.nlm.nih.gov/. Accessed October 15, 2022.

8. Names and registry of glycogen storage diseases. Association for Glycogen Storage Disease. Available at: . Accessed October 15, 2022.

9. Genetic testing for glycogen storage diseases. American Association for Clinical Chemistry (AACC). Available at: https://labtestsonline.org/conditions/glycogen-storage-diseases. Accessed October 15, 2022.

10. Resonance on GBE1 gene mutations and related disorders. The Clinical and Scientific Catalog of Genes and Genetic Disorders. Available at: https://www.ncbi.nlm.nih.gov/gene. Accessed October 15, 2022.

11. Information on specific genetic conditions. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/. Accessed October 15, 2022.