A familial disorder of uric acid metabolism and central nervous system function

Abstract

A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in these patients were found to be similar in size to those reported for gouty adult subjects; their rates of turnover were greater than any previously reported. The daily excretion of uric acid in the urine was considerably higher than those of control patients and approximated total values found in gouty adult “hyperexcretors.” The formation of uric acid from glycine in these patients exceeded that of control patients by 200 times. These data suggest that the patients described represent a distinct clinical and metabolic syndrome.