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Polyglucosan body disease, adult
Other Names for this Disease
- Polyglucosan body disease, adult form
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metabolic disorder. It is caused by excessive accumulation of polyglucosan bodies in tissues, including nerve, muscle, liver, kidney, and lung. The disease can cause neurogenic bladder, dementia, loss of feeling in the lower limbs, and upper and lower motor neuron dysfunction. A variety of different biochemical defects may cause polyglucosan body disease. Glycogen branching enzyme (GBE) deficiency has been identified as the cause in some patients. Treatment of people with polyglucosan body disease is generally supportive, addressing symptoms such as walking impairment, incontinence, and dementia.Polyglucosan body disease is a slowly progressive
Last updated: 12/2/2008
- Genetics Home Reference (GHR) contains a gene summary on glycogen branching enzyme (GBE1). Mutations in this gene are associated with adult polyglucosan body disease in some patients. Click on the link to go to GHR and review this summary
- 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.
- The Doctor’s Doctor, a Web site created by pathologists, has developed an information page on adult polyglucosan body disease which can be accessed by clicking on the link above.
- The Neuromuscular Disease Center of Washington University Web site outlines a variety of neurological conditions including polyglucosan body disease. Click on Neuromuscular Disease Center to view the outline.
In Depth 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Polyglucosan body disease, adult. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Polyglucosan body disease, adult. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Robertson NP, Wharton S, Anderson J, Scoldinga NJ. Adult polyglucosan body disease associated with an extrapyramidal syndrome. J Neurol Neurosurg Psychiatry. 1998;65:788-790. You may need to register to view the article, but registration is free. To register click on the link above and select "Register for Access."