| 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. | |
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MedLine Citation:
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PMID: 6468444 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A nationwide neonatal screening 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. |
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Authors:
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K Tada; H Tateda; S Arashima; K Sakai; T Kitagawa; K Aoki; S Suwa; M Kawamura; T Oura; M Takesada |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of pediatrics Volume: 142 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1984 Aug |
Date Detail:
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Created Date: 1984-10-25 Completed Date: 1984-10-25 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 204-7 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Biopterin
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deficiency Female Follow-Up Studies Galactosemias / epidemiology Histidine / blood Homocystinuria / epidemiology Humans Infant Infant, Newborn Intelligence Japan Male Maple Syrup Urine Disease / epidemiology Mass Screening* Metabolism, Inborn Errors / diet therapy, epidemiology*, psychology Phenylalanine / blood Phenylketonurias / epidemiology |
| Chemical | |
Reg. No./Substance:
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22150-76-1/Biopterin; 63-91-2/Phenylalanine; 71-00-1/Histidine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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