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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Adult polyglucosan body disease

Reviewed February 2013

What is adult polyglucosan body disease?

Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia).

People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60.

How common is adult polyglucosan body disease?

Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature.

What genes are related to adult polyglucosan body disease?

Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations result in a shortage (deficiency) of the glycogen branching enzyme, which leads to the production of abnormal glycogen molecules. These abnormal glycogen molecules, called polyglucosan bodies, accumulate within cells and cause damage. Nerve cells (neurons) appear to be particularly vulnerable to the accumulation of polyglucosan bodies in people with this disorder, leading to impaired neuronal function.

Some mutations in the GBE1 gene that cause adult polyglucosan body disease do not result in a shortage of glycogen branching enzyme. In people with these mutations, the activity of this enzyme is normal. How mutations cause the disease in these individuals is unclear. Other people with adult polyglucosan body disease do not have identified mutations in the GBE1 gene. In these individuals, the cause of the disease is unknown.

Related Gene(s)

Changes in this gene are associated with adult polyglucosan body disease.

  • GBE1

How do people inherit adult polyglucosan body disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of adult polyglucosan body disease?

These resources address the diagnosis or management of adult polyglucosan body disease and may include treatment providers.

  • Gene Review: Adult Polyglucosan Body Disease (
  • Genetic Testing Registry: Polyglucosan body disease, adult (
  • MedlinePlus Encyclopedia: Neurogenic Bladder (
  • MedlinePlus Encyclopedia: Spasticity (

You might also find information on the diagnosis or management of adult polyglucosan body disease in Educational resources and Patient support.

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

Where can I find additional information about adult polyglucosan body disease?

You may find the following resources about adult polyglucosan body disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for adult polyglucosan body disease?

  • APBD
  • polyglucosan body disease, adult form

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

What if I still have specific questions about adult polyglucosan body disease?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding adult polyglucosan body disease?

autosomal ; autosomal recessive ; cell ; deficiency ; dementia ; enzyme ; gene ; glycogen ; inherited ; nervous system ; neuropathy ; peripheral ; peripheral neuropathy ; prevalence ; recessive ; spasticity

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Gene Review: Adult Polyglucosan Body Disease (
  • Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. (
  • Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. (
  • Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. 2008 Apr;37(4):530-6. (
  • Milde P, Guccion JG, Kelly J, Locatelli E, Jones RV. Adult polyglucosan body disease. Arch Pathol Lab Med. 2001 Apr;125(4):519-22. (
  • Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. (
  • Savage G, Ray F, Halmagyi M, Blazely A, Harper C. Stable neuropsychological deficits in adult polyglucosan body disease. J Clin Neurosci. 2007 May;14(5):473-7. Epub 2006 May 30. (
  • Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Schröder JM, Malin JP, Vorgerd M. Adult polyglucosan body disease: a postmortem correlation study. Neurology. 2003 Jul 22;61(2):263-5. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: February 2013
Published: February 1, 2016