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

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dc.contributor.authorAoki, Kikumaroen_US
dc.date.accessioned2009-05-27T16:04:50Z
dc.date.available2009-05-27T16:04:50Z
dc.date.issued2003-03-24en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health.en_US
dc.description.abstractA 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.en_US
dc.description.affiliationKagawa Nutrition University, Saitama, Japan.en_US
dc.identifier.citationAoki K. Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan. The Southeast Asian Journal of Tropical Medicine and Public Health. 2003 ; 34 Suppl 3(): 19-23en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/34369
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/publication.htmen_US
dc.subject.meshAdolescenten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshHumansen_US
dc.subject.meshIncidenceen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshJapan --epidemiologyen_US
dc.subject.meshMetabolism, Inborn Errors --diagnosisen_US
dc.subject.meshNeonatal Screening --organization & administrationen_US
dc.subject.meshProgram Evaluationen_US
dc.subject.meshReference Valuesen_US
dc.subject.meshTime Factorsen_US
dc.titleLong term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan.en_US
dc.typeJournal Articleen_US
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