Abstract
A syndrome of mental retardation, spastic cerebral palsy, choreoathetosis, and self-destructive biting has been observed in a 22-month-old boy, who is described as the third and youngest patient studied. Hyperuricemia was found at 4 months of age. The excretion of uric acid in the urine was considerably higher than that of controls and was in the range of values found in those adults with gout who are classified as hyperexcretors. The conversion of C 14 -labeled glycine to uric acid exceeded that of controls by a factor of 200 times. These data provide confirmation for a chemical deviation from normality that is as striking as the clinical manifestations of the disorder. They suggest the possibility that intermediates of purine metabolism may be of importance for the integrity of the developing nervous system.
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