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Article
January 1969

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
Abstract

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

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