Adult Polyglucosan Body Disease (APBD) synonyms

Adult Polyglucosan Body Disease (APBD) is a rare genetic disorder that affects the nervous system. It is also known by several other names, including:

• Polyglucosan Body Disease


• Polyglucosan Body Neuropathy


• Polyglucosan Storage Myopathy


• Polyglucosan Storage Disease

APBD is characterized by the accumulation of abnormal glycogen deposits, called polyglucosan bodies, in various tissues of the body, particularly in nerve cells. These deposits disrupt normal cellular function and lead to progressive neurological symptoms.

The disease typically manifests in adulthood, usually between the ages of 30 and 60, although it can occur earlier or later. The initial symptoms may vary but commonly include difficulty walking, muscle weakness, and urinary problems. As the disease progresses, individuals may experience cognitive impairment, loss of sensation, and muscle wasting.

APBD is caused by mutations in the GBE1 gene, which provides instructions for producing an enzyme called glycogen branching enzyme. This enzyme is responsible for breaking down glycogen, a complex sugar that serves as a stored form of energy in cells. Mutations in the GBE1 gene impair the function of glycogen branching enzyme, leading to the abnormal accumulation of glycogen in tissues.

Diagnosis of APBD involves a combination of clinical evaluation, genetic testing, and specialized laboratory tests to detect the presence of polyglucosan bodies. Unfortunately, there is currently no cure for APBD, and treatment focuses on managing symptoms and improving quality of life.

Research efforts are ongoing to better understand the underlying mechanisms of APBD and develop potential therapies. Genetic counseling is recommended for individuals with a family history of APBD or those planning to have children, as the disease follows an autosomal recessive inheritance pattern.