Gout and Glycogen Storage Disease

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Abstract
A brother and 2 sisters, known from childhood to have glycogen storage disease of the liver (Von Gierke''s disease), survived to adult life. The course of their disorder was followed. The brother and 1 sister developed hyperuricemia and symptoms of gout, and died from the effects of chronic renal disease at the ages of 40 and 36. The second sister remains healthy and active at the time of this account. From these patients and other reported cases it seems that there may be more than a chance association between gout and glycogen storage disease of the liver. Possible explanations of the association are considered. Evidence from the 3 patients here reported and from published reports of other patients points to the possibility that hyperuricemia in glycogen storage disease is associated with persistently elevated concentrations of blood lactate. If lactate acidosis is the cause and hyperuricemia the effect, an explanation of the mechanism is available in the literature. It has been shown that in ketosis, or when the blood lactate is abnormally increased, there is an increased reabsorption of urate in the renal tubules and therefore a diminished clearance of urate. Because painful and disabling gout occurred in the 2 patients with hyperuricemia and because their deaths from uremia may be attributed to the development of "gouty" kidney, their hyperuricemia should have been regarded as a potentially serious development requiring correction at an early stage. Unfortunately the hyperuricemia and the renal disease had developed in these patients before the value of uricosuric agents was generally appreciated. It has since been shown that probenecid is effective in the hyperuricemia associated with glycogen storage disease. In future instances of glycogen storage disease the development of hyperuricemia should be recognized and treated before the development of its serious complications.