PURINE METABOLISM IN THERAPY OF VON GIERKE'S DISEASE

Abstract

Recently Green et. al. (N.E.J. Med. 294:423, 1976) have demonstrated that nocturnal infusion of a high carbohydrate diet is effective in treating patients with Von Gierke's disease. We have studied potential factors which may explain the lower serum uric acid with this therapy. Glycine-1-¹⁴C incorporation into urine uric acid, fractional renal acid clearance and red cell phosphoribosylpyrophosphate (PRPP) levels were studied during a control period of frequent daily high carbohydrate feedings (hcf) and frequent daily high carbohydrate feedings and nocturnal vivonex infusion (hcfn). Twenty four hours after injection of glycine-1-¹⁴C, the specific activity of uric acid was 3 times greater in hcf than in a control with Glycogen Storage Type III, and this was lowered to 2 times greater with hcfn. Total six day incorporation was 0.68% of the injected glycine-1-¹⁴C with hcf, 0.40% in hcfn, and 0.18% in the control. Fraction excretion of uric acid increased fron 11.3 per cent in hcf to 26.3 per cent in hcfn. PRPP levels were 8.0 picomoles/mg protein in hcf, 6.4 in hcfn and 6.0 in controls. We conclude additional of nocturnal feedings to hcf 1)decreases the accelerated de novo purine synthesis to a level still higher than control 2)increases fractional renal uric acid excretion by the kidney associated with lowered serum lactic acid, and 3)does not change red cell PRPP levels. Near normalization of purine metabolism with hcfn in Von Gierke's disease should significantly decrease the risk of gout.

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