Polyglucosan body disease, adult
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Polyglucosan body disease is a slowly progressive 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.[1] 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.[2] Treatment of people with polyglucosan body disease is generally supportive, addressing symptoms such as walking impairment, incontinence, and dementia.[1]
References
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Klein CM. NORD Guide to Rare Disorders. In: . Adult Polyglucosan Body Disease. :; 2003:
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Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic, and molecular studies. Curr Mol Med. 2002 Mar.
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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.
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The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
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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.
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PubMed lists journal articles that discuss Polyglucosan body disease, adult. Click on the link to go to PubMed and review citations to these articles.
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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.
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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.
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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
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