Glycogen branching enzyme leads to increased osmotic pressure resulting in cellular swelling and death. The tissues most affected by this disease are the liver, heart, and neuromuscular system, areas with the greatest levels of glycogen accumulation. Abnormal glycogen buildup in the liver interferes with liver functioning and can result in an enlarged liver and liver disease. In muscles, the inability of cells to efficiently breakdown glycogen due to the severe reduction or absence of branching can lead to muscle weakness and atrophy. At least three mutations in the GBE1 gene have been found to cause another disease called adult polyglucosan body disease (APBD).
Equine exertional rhabdomyolysis cell membranes may then be damaged if the horse is forced to continue work, which allows muscle enzymes and myoglobin to leak into the bloodstream. The body builds up a store of glycogen from converted carbohydrates in muscle cells. Glycogen, a fuel used by muscles for energy, is depleted during work and restocked when a horse rests. Oxygen-carrying blood metabolizes glycogen, but the blood can not flow fast enough to metabolise the excess stored glycogen. The glycogen that is not metabolized aerobically (by the oxygenated blood) must then be metabolized anaerobically, which then creates the cell waste products and heat,