Hyperuricemia in Down's Syndrome

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Abstract
In 280 patients with Down's syndrome, levels of uric acid in serum were significantly higher in all age groups and in both sexes when compared to 298 control subjects. The variations in levels of uric acid in relation to age and sex in mongoloids, and the mean levels of uric acid in nonmongoloid retardates, were similar to those previously reported in an unselected population. Hyperuricemia was not observed in 27 patients with Klinefelter's syndrome, or in parents of mongoloids. No difference with respect to hyperuricemia was seen in mongoloids with chromosomal trisomy or translocation. The finding of excessive urinary excretion of uric acid suggests that, at least in some mongoloids, the hyperuricemia is related to overproduction of urate.