Deficiencies in glucose 6-phosphatase can result in what’s known as von Gierke D

Question

Deficiencies in glucose 6-phosphatase can result in what’s known as von Gierke Diesease (a glycogen storage disease). Patients with this disease suffer from bouts of gout. In von Gierke Disease patients, the liver is unable to dephosphorylate glucose 6-phosphate which leads to a diversion of this sugar into the pentose phosphate pathway to produce ribose 5-phosphate. One regulation of purine synthesis that we didn’t talk about in class has to do with the fact that ribose 5-phosphate leads to the increased activation of PRPP synthase and subsequent accumulation of PRPP.    Given this information, describe the metabolic basis of gout in these patients. (Hint- the metabolism underlying gout in these patients is similar to the metabolism underlying gout in Lesch-Nyhan Syndrome).

Explanation / Answer

Increased activation of PRPP synthase and subsequent accumulation of PRPP, which enhances denovo synthesis of purine nucleotides in excess than body needed. Excess purine nucleotides catabolyzed resulting in elevation of uric acid production, which leads to gout.

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