RESENT reports have established the existence of a sex-linked, recessive inborn error of purine metabolism in which hyperuricemia and hyperuricosuria are associated with a distinctive clinical syndrome.1-6 Stunting of growth, retardation of mental and motor development, choreoathetosis, generalized spasticity, and compulsive selfmutilation characterize the clinical defect.3-6 The metabolic abnormalities have been attributed to a deficiency of the enzyme inosinate phosphoribosy pyrophosphate transferase (IMP:PRPP transferase).7 This enzyme mediates the conversion of hypoxanthine to inosinate (hypoxanthine ribosylphosphate), a reaction that permits the reutilization of hypoxanthine for nucleotide synthesis. Since hypoxanthine cannot be reutilized in patients with the disease, whatever hypoxan-thine is formed is either excreted or further catabolized to xanthine and uric acid. The hyperuricemia and hyperuricosuria in these patients also reflect a marked increase in de novo purine synthesis associated with an exceedingly rapid turnover of purine nucleotides.3
In the present report, the results of
Berman PH, Balis ME, Dancis J. Congenital Hyperuricemia: An Inborn Error of Purine Metabolism Associated With Psychomotor Retardation, Athetosis, and Self-Mutilation. Arch Neurol. 1969;20(1):44–53. doi:10.1001/archneur.1969.00480070054006
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