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Polyglucosan body disease, adult

Other Names for this Disease
  • APBD
  • Polyglucosan body disease, adult form
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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]
Last updated: 12/2/2008


  1. Klein CM. Adult Polyglucosan Body Disease. NORD Guide to Rare Disorders. 2003;
  2. 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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Basic Information

  • Genetics Home Reference (GHR) contains information on Polyglucosan body disease, adult. This website is maintained by the National Library of Medicine.
  • 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) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.

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