Hereditary Choreoathetosis, Self-Mutilation and Hyperuricemia in Young Males

Clinical, biochemical & genetic observations are described in 2 separate families with 3 young boys affected by a syndrome consisting of severe choreoathetosis dating from early infancy, self-mutilative behavior & persistent elevation of the levels of uric acid in blood & urine. Six other males in 1 kindred had died in early childhood after a similar clinical syndrome.