December 1966

Hyperuricemia in Glycogen-Storage Disease Type 1

Author Affiliations

From the Department of Pediatrics, Division of Metabolic-Renal Diseases, Childrens Hospital of Los Angeles, and the Department of Pediatrics, University of Southern California School of Medicine, Los Angeles.

Am J Dis Child. 1966;112(6):572-576. doi:10.1001/archpedi.1966.02090150116013

THE ASSOCIATION of hyperuricemia with glycogen-storage disease (GSD) type 1 or von Gierke's disease has been described in 20 patients.1 In some of these patients gouty arthropathy and nephropathy have occurred.2-4 The mechanism responsible for hyperuricemia has not been delineated, but is thought to result from altered renal tubular function.5 Normally, 90%-95% of the uric acid which is filtered at the glomeruli is reabsorbed by the proximal renal tubules. The major portion which appears in the urine seems to be secreted by the distal renal tubules.6 It has been hypothesized that the hyperlacticacidemia which these patients manifest either enhances renal tubular reabsorption or inhibits renal tubular secretion of uric acid, thereby decreasing uric acid clearance (Cur) and producing hyperuricemia.3

The purpose of this study was to determine the effect of lactic acid and glucose in the development of hyperuricemia in patients with GSD type

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