Two patients with glucose-6-phosphatase deficiency glycogen storage disease and tophaceous gout have been studied in an effort to establish the possible relationships between the primary defect in carbohydrate metabolism and their hyperuricemia and gouty arthritis. The present studies support the view that lacticacidemia is a contributing factor to the hyperuricemia of these patients. However, hypoglycemia and ketonemia probably also contribute to the urate retention. The finding of an increased rate of urate biosynthesis in the one patient whose de novo purine biosynthesis was greater than normal points to an additional mechanism for the hyperuricemia found in this type of glycogen storage disease.
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