1 Departments of Pediatrics, Internal Medicine, and Obstetrics and Gynecology, University of Texas Southwestern Medical School of Dallas, 5323 Harry Hines Boulevard Dallas, Texas
2 Departments of Pediatrics, Internal Medicine, and Obstetrics and Gynecology University of Texas Southwestern Medical School of Dallas 5323 Harry Hines Boulevard Dallas, Texas
At the present time the familial hyperuricemia syndrome (Lesch-Nyhan) leading to mental deficiency,1 is an untreatable disease. Since it was originally felt that the mental deficiency might be related to the hyperuricemia, early diagnosis would be imperative. We have recently found such a case at birth with a uric acid level of 19 mg/100 ml at 1 day of age.2 An attempt to diagnose this condition as early as possible has led us to a study of uric acid levels and their significance in fluid obtained by amniocentesis done in the third trimester of pregnancy.