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. 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.