Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

Abstract

Summary: Factors which may explain lower serum uric acid in a new therapy of patients with glycogen storage disease (GSD) type I have been studied. [1-¹⁴C]Glycine incorporation into urine uric acid was 0.68% of the injected dose during a 6-day period of frequent high carbohydrate feedings, 0.40% with the same diet and nocturnal nasogastric feeding by Vivonex, and 0.18% in a control patient with GSD type III. Fractional renal uric acid excretion in the patient with GSD type I increased from 11.3% to 26.3% after beginning nocturnal nasogastric feeding of Vivonex. Red cell phosphoribosylpyrophosphate levels were not changed by the therapy. Addition of Vivonex nocturnal feedings to frequent high carbohydrate feedings (1) decreased the accelerated de novo purine synthesis to a level still higher than control and (2) increased fractional renal uric acid excretion.

Speculation: Near normalization of purine metabolism with nocturnal feeding should decrease the risk of gout in GSD type I.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD