michael94
Member
- Joined
- Oct 11, 2015
- Messages
- 2,419
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.
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.
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.
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