Do you know someone with urinary issues along with peripheral neuropathy? If so read on – you might find this invaluable.
APBD is a genetic disorder that results in the low activity of an important enzyme, Glycogen Branching Enzyme (GBE1), which is used to make glycogen. What is glycogen? Glycogen is the reserve “fuel” that is stored in your cells. Stored glycogen normally takes over when your normal fuel, glucose, runs low. Glycogen itself is made by your body from glucose, but your cells must have this special enzyme (GBE) to make it correctly.
So, what is so bad about the malformed Glycogen? Well, at least two bad things happen as a result of the incorrectly manufactured glycogen.
First, when there is low activity of the branching enzyme, newly formed glycogen is manufactured incorrectly into long strands called polyglucosan bodies. These polyglucosan bodies cannot be used for fuel and build up inside nerve cells. This causes damage to these nerves. The damage often results in numbness, and eventually weakness in the muscles controlled by these nerves. Hence, this disorder has become known as Polyglucosan Body Disease.
Second, since a lot of the glycogen was built wrong, and cannot be used as a normal fuel, the cells needing this fuel run low on energy much faster than normal. Hence, patients with APBD often report serious fatigue at certain times during the day.
In the longer term what does low glycogen branching enzyme activity do to the patient?