Newborn screening in Japan.

In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according to law. A new activity involving screening for Wilson disease now necessitates taking dried blood specimens from children 1-3 years old.

Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan.

A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95% of the newborns during this period. A collaborative study group has performed a follow-up study of the cases detected by this program since the start of this screening program. The results we have obtained through this study to date include: hyperphenylalaninemia, 1:70,000; congenital hypothyroidism, 1:5,000; and, congenital adrenal hyperplasia, 1:20,000. The cases of maple syrup urine disease, homocystinuria, and galactosemia type 1 were too few for a reliable incidence. Accumulated data for PKU show that IQ is inversely related to blood phenylalanine level and stricter dietary control guidelines have resulted. We now have a number of adolescents with PKU and long-term follow-up data are being obtained.