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Glycogen storage disease type 4
Other Names for this Disease
- Amylopectinosis
- Andersen disease
- Brancher deficiency
- Cirrhosis, familial, with deposition of abnormal glycogen
- Glycogen branching enzyme deficiency
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Overview
Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.[1]
References
- Marsden D. Andersen Disease (GSD IV). NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewAbstract. Accessed December 23, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 4. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 4. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glycogen storage disease type 4. Click on the link to go to OMIM and review these resources.