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Epidemiological analysis of inborn errors of metabolism detected through newborn mass-screening program in Japan. Kikumaro AOKI 1 1Research Development Department, Aiiku Maternal and Child Health Center pp.799-808
Published Date 1989/10/10
DOI https://doi.org/10.11477/mf.1431906332
  • Abstract
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This article has attempted to show how the incidence of phenylketonuria was improved through a better decrease of consanguineous marriage. A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia, using Guthrie's method, was started throughout Japan in 1977. The total number of newborn screened by March 1987 reached 14 million: this represents nearly 95% of the newborns born during 1978~1987. A follow-up study of the cases detected by this program has been performed by a collaborative study group since the initiation of this screening program. The total number of phenylketonuria detected through this mass-screening program was 122, yielding a calculated incidence of one in 117,787 during 1978 to 1987 (Table 4), which is lower than estimated incidence before starting this screening program. In 1961, Tanaka et al. calculated the incidence of phenylketonuria at about one in 56,000 to 63,000, and in 1977, Gamou et al. estimated it at about one in 15,000 to 53,000. A recentdecrease in the rate of consanguineous marriage, which was surveyed by Imaizumi as 16.17% at 1942 and 3.9% at 1983 in general population, seems to be a reasonable factor for the lower incidence of phenylketonuria during these ten years of newborn screening program. The rate of first cousin marriage in parents of phenylketonuric patients, which was 34.85% (1961, by Tanaka) and 21.05% (1977, by Oura), decreased to 3.20% according to the present study. The distribution of the patients is different from the parts by dividing this country into ten districts. Kyushu district shows the highest incidence than other districts. This tendency is more prominent in maple syrup urine disease, and the rate of consanguineous marriage is also the highest in Kyushu district.


Copyright © 1989, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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