Clinical and Therapeutic Aspects of the Lesch-Nyhan Syndrome in Japanese Children

Abstract

The signs and symptoms, i. e. hyperuricemia, hyperuricosuria, defect of HG-PRTase activity, increase of urinary and plasma oxypurines, choreoathetosis and self-mutilation, are reported in five Japanese children with the LESCH-NYHAN syndrome. Allopurinol, benzbromarone, azathioprine and other drugs were used in order to correct the purine metabolism and the neurological signs. Uric acid level in the serum did not correlate with the severity of cerebral dysfunction.