APBD 101

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?

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    The typical APBD patient will begin with numbness in his or her extremities. Often this is in the toes and feet. In addition, he or she will often develop urinary frequency that far exceeds the norm. Over a period of years the numbness will progress to a loss of muscle control, and eventually to an inability to walk. The urinary frequency will often progress to a near complete loss of urinary control.

    The numbness and urinary problems are by no means all of the bodily systems affected. Exactly what parts of our bodies are damaged varies from person to person. Also, the onset of APBD can vary greatly from person to person. It is, however, a “prime of life” illness. For a few it starts in the 30’s or 40’s. For others, it starts in the 50’s or 60’s. But, in the end, the average life span of the APBD patient is believed to be about 71 years. In any case, it is fair to say that the last five years for the APBD patients are usually not so great!

    This APBD disorder is not well known throughout the medical establishment. Many APBD patients are misdiagnosed, with many undergoing inappropriate treatments.

    For this reason we are working hard to get the word out about APBD, and help APBD patients find out what is really wrong with them. In addition, there are a number of research projects taking place right now in an attempt to find a solution. We believe the prospects are good, but a continued strong focus will be the key to success.