Excessive production of uric acid in type I glycogen storage disease

An increased de novo production of uric acid has been demonstrated in three hyperuricemic siblings with Type I glycogen storage disease. The hyperuricemia in Type I glycogen storage disease, therefore, appears to result from the previously demonstrated reduced renal clearance of uric acid as well as increased uric acid biosynthesis. Hyperuicemia regularly occurs in patients with Type I glycogen storage disease; gouty arthritis and gouty nephropathy frequently develop into the major clinical problems in these patients as they become adults. Hypoxanthine-guanine phosphoribosyltransferase activity, which is deficient in certain patients with overproduction of uric acid, was normal in the three patients studied.