Von Gierke Disease’s Impact on Purine Biosynthesis
Von Gierke disease (GSD Type Ia) is a rare glycogen-storage disorder caused by a deficiency in the glucose-6-phosphatase (G6Pase) enzyme activity. In the liver, this deficiency causes the accumulation of glucose-6phosphate (G6P), as well downstream metabolites (Lucasce-6phosphate [L6P]) (Bienvenu and al., 2002). L6P levels can increase purine biosynthesis. L6P, an important precursor molecule in purine metabolism can be entered purine synthesis pathways through two routes. First, it can be entered through the purine nuclear salvage pathway. This pathway is responsible for most of the human purine synthesis. Secondly, it can enter through the de novo purine synthesis pathway (Müller et al., 2016).
L6P Dehydrogenase activates the purine nucleoside salvage pathway, which is the main pathway for human purine synthesis. This enzyme is responsible for the conversion L6P to 6-phosphorylpurine ribonucleoside, (PrPP) which is an important step in purine biosynthesis. Cont….