These examples include (i) AMPD1, an enzyme involved in the purine nucleotide cycle, (ii) PYGM, an enzyme essential for carbohydrate metabolism and glycogenolysis, (iii) CA3, a metalloenzyme catalyzing hydration of carbon dioxide, and (iv) ENO3, an isoenzyme suggested to play a role in muscle development and regeneration, with mutations associated with glycogen storage disease [21]. Here, AMPD1 is linked to Glycogen storage disease due to glycogenin deficiency.