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August 1972

Clinical Features of the Lesch-Nyhan Syndrome

Author Affiliations

San Diego, Calif

From the Department of Pediatrics, University of California, School of Medicine, San Diego.

Arch Intern Med. 1972;130(2):186-192. doi:10.1001/archinte.1972.03650020016004

Lesch-Nyhan syndrome is characterized clinically by mental retardation, choreoathetosis, spastic cerebral palsy, and aggressive, self-mutilating behavior. It is transmitted as an X-linked excessive character in which the primary expression of the mutant gene is in the activity of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGPRT). Metabolically, the disorder is characterized by hyperuricemia and increased amounts of uric acid in the urine. There is enormous overproduction of purine de novo. Treatment with allopurinol therapy is effective in the management of those aspects of the disease that are common to this condition and gout in the adult. Treatment is not available which is effective against the cerebral manifestations of the disease.

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