European Journal of Pediatrics

, Volume 142, Issue 3, pp 204–207 | Cite as

Follow-up study of a nation-wide neonatal metabolic screening program in Japan

A collaborative study group of neonatal screening for inborn errors of metabolism in Japan
  • K. Tada
  • H. Tateda
  • S. Arashima
  • K. Sakai
  • T. Kitagawa
  • K. Aoki
  • S. Suwa
  • M. Kawamura
  • T. Oura
  • M. Takesada
  • Y. Kuroda
  • F. Yamashita
  • I. Matsuda
  • H. Naruse
Original Investigations

Abstract

A nationwide neonatal sreening program for phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, histidinemia and galactosemia was started in Japan in 1977. The total number of infants screened had reached 6,311,754 by March, 1982. A follow-up study revealed the incidence of the disease in Japan: 1/108,823 for PKU; 1/450,840 for hyperphenylalaninemia (HPA); 1/1,577,939 for biopterin deficiency; 1/525,980 for MSUD; 1/1,051,959 for homocystinuria; 1/8,371 for histidinemia, and 1/788,969 for galactosemia type 1. The incidences of PKU, HPA, homocystinuria, and galactosemia (type 1) were found to be markedly low in Japan as compared with those in Caucasian countries. There was no great difference in the incidence of MSUD between both. On the other hand, the incidence of histidinemia was higher in Japan.

It was found that most of the patients with PKU, HPA, MSUD, homocystinuria, or galactosemia are developing normally due to the early initiation of dietary treatment. These results clearly indicate that the neonatal mass screening program plays a great role in preventing the occurrence of handicapped children.

Key words

Neonatal screening Phenylketonuria Maple syrup urine disease Homocystinuria Galactosemia 

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • K. Tada
    • 1
  • H. Tateda
    • 1
  • S. Arashima
    • 2
  • K. Sakai
    • 3
  • T. Kitagawa
    • 4
  • K. Aoki
    • 5
  • S. Suwa
    • 6
  • M. Kawamura
    • 7
  • T. Oura
    • 8
  • M. Takesada
    • 8
  • Y. Kuroda
    • 9
  • F. Yamashita
    • 10
  • I. Matsuda
    • 11
  • H. Naruse
    • 12
  1. 1.Department of PediatricsTohoku University Medical SchoolSendaiJapan
  2. 2.Department of PediatricsHokkaido University Medical SchoolSapporoJapan
  3. 3.Department of PediatricsNiigata University Medical SchoolNiigataJapan
  4. 4.Department of PediatricsNihon University Medical SchoolTokyoJapan
  5. 5.Research DevelopmentAiiku Maternal and Child Health CenterTokyoJapan
  6. 6.Kanagawa Children's Medical CenterKanagawaJapan
  7. 7.Meijo HospitalNagoyaJapan
  8. 8.Children's Medical Center of Osaka CityOsakaJapan
  9. 9.Department of PediatricsTokushima University Medical SchoolTokushimaJapan
  10. 10.Department of PediatricsKurume University Medical SchoolKurumeJapan
  11. 11.Department of PediatricsKumamoto University Medical SchoolKumamotoJapan
  12. 12.National Center for Nervous, Mental and Muscular DisordersTokyoJapan

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