Excessive purine synthesis and neurologic dysfunction in children.

Abstract

AbstractClinical and biochemical features in four boys with neurologic dysfunction and excessive uric acid production are reported. Three boys with the Lesch‐Nyhan syndrome had about 2% of normal activity of HG‐PRTase in red blood cells. On the basis of clinical manifestations and enzyme studies, the fourth patient had a separate biochemical defect. Azathioprine and allopurinol failed to suppress purine biosynthesis in either condition. The children were exquisitely sensitive to the uricogenic effect of 2‐ethylamino‐1,3,4‐thiadiazole. The mother of a boy with Lesch‐Nyhan syndrome had marginally increased glycine‐14C incorporation into uric acid, with an isotopic pattern intermediate between those observed in the Lesch‐Nyhan syndrome and in normals.