Hyperuricemia and Neurologic Deficits

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Abstract
Of 22 members of a kindred who manifested varying degrees of a previously undescribed syndrome, five had the complete syndrome of hyperuricemia, renal insufficiency, ataxia and deafness. Serum urate levels were elevated in other members of the kindred who did not have renal insufficiency, indicating the hyperuricemia was not secondary to renal disease. Neurologic abnormalities, including ataxia, weakness and deafness, varied in severity from minimal to disabling involvement. Red-cell hypoxanthine-guanine phosphoribosyltransferase levels were normal in the kindred. The biochemical defect and the cause of the neurologic dysfunction are not known.