Adult Polyglucosan Body Disease ( Glycogen Storage Problems )

[michael94]

First, I would like to make clear that the classification of metabolic disorders ( such as this one ) is somewhat erroneous in the way that the problems associated are supposedly limited to those that meet a threshold for diagnosis. I.e. If 1/100 have a disease, the other 99 are magically free from the same problems even under stressful contexts. As you guys know this sort of thinking has a lot of problems. moving on

Adult Polyglucosan Disease is a type of Glycogen Storage Disorder, where Glycogen Branching is hindered. This causes two main problems, a lack of glycogen being stored and the unbranched glycogen pieces ( polyglucosan bodies ) causing damage in cells. Diagnosis is characterized by a defect in GBE1 ( Glycogen Branching Enzyme 1 ) which causes a deficiency of the Glycogen Branching Enzyme. However even Wikipedia admits that people can have the same problems with polyglucosans and failed glycogen storage despite having enough of the enzyme.

Some mutations in the GBE1 gene that cause adult polyglucosan body disease 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 disease in these individuals is unclear. Other people with adult polyglucosan body disease do not have identified mutations in the GBE1 gene. In these individuals, the cause of the disease is unknown

Again nothing new, with what we know about poor health/stress/hypothyroidism and inadequate glycogen storage... But what might be a revelation is that it's possible that failure to store glycogen properlycan itself be toxic via unbranched polyglucosan bodies which are highly toxic to nerve cells. This is simultaneously vindicating and damning for Simple Sugar ( and Galactose ) phobia. Vindicating, due to another mechanism of problems with sugar intake being elucidated.. and Damning due to possibility of rescuing this metabolic problem from the Abyss.

 

[michael94]

Some Symptoms: Intense Nerve based urination problems, Fatigue, Dementia, Trouble walking


Treatment ( sort of ):

This section not necessarily to be prescriptive, but rather make observations on some of the treatments that doctors have used with success. We should note that there is no "cure".. which is typical of metabolic problems that are tunnel-visioned on a gene mutation. I remember reading that people with glycogen storage diseases tend to stick to easy to digest starches taken frequently. And here Nestle even markets a specific type of starch for Glycogen Storage Disorders which I find pretty fascinating. Other opt for the low-carb route

In a more "chemical" approach, the easy and cheap to acquire solvent Guaiacol has been used with great success for Polyglucosan associated problems. Guaiacol is not only a Carbonic Anhydrase Inhibitor, but also causes Biblical Plagues.. hehe.