Abstract
Neonatal mass screening for inborn errors of metabolic disease started in 1977. A screening program of congenital hypothyroidism started in 1979, and screening of congenital adrenal hyperplasia started in 1989. About 460, 000 neonates born in Okayama prefecture were screened. 4 cases were diagnosed as classical PKU (phenylketonuria), 1 case of BH4 (Tetrahydrobiopterin) deficiency, and 5 cases as HPA (Hyperphenylalaninemia). 2 cases of MSUD (Maple syrup urine disease) were found No cases of homocystinuria nor classical galactosemia were screened. About 410, 000 neonates were screened for congenital hypothyroidism and 96 neonates (72 in our hospital) were confirmed and well treated. The frequency was 1/4, 000. About 180, 000 neonates were screened for congenital adrenal hyperplasia and 14 (11 in our hospital) cases were confirmed. The frequency was 1/13, 000. Long-term intellectual milestone in these patients demonstrated good results.
