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<unk> . 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<unk>  bodies, accumulate within cells and cause damage. Neurons appear to be particularly vulnerable to the accumulation of<unk>  bodies in people with this disorder, leading to impaired neuronal function. Some mutations in the GBE1 gene that cause<unk>  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<unk>  in these individuals is unclear. Other people with<unk>  do not have identified mutations in the GBE1 gene. In these individuals, the cause of the<unk>  is unknown.
Adult polyglucosan body disease
Akureyri disease
Anti-AQP4 disease
GM2-gangliosidosis, AB variant
Familial amyloid neuropathy
Familial amyloid polyneuropathy
Zaki syndrome
Gangliosidosis