Abstract
Neonatal mass screening for inborn errors of metabolic disease started in 1977. A screening program for cretins started in 1979. Neonatal screening for 21-OH deficiency started in 1989. A total of 344, 844 neonates were screened. Three cases were diagnosed as classical PKU and 2 cases as HPA. There were 2 cases of MSUD. No homocystinuria was found. Epimerase deficiency was detected in 8 infants. A total of 289, 831 neonates were screened for CH. Fifty-three cretins were confirmed and well treated. The frequency was 1/5, 500. A total of 63, 878 neonates were screened for CAH, and 5 cases were detected. Long-term intellectual development in these patients demonstrated good results.
