Document Detail

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.
MedLine Citation:
PMID:  6468444     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of pediatrics     Volume:  142     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-10-25     Completed Date:  1984-10-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  204-7     Citation Subset:  IM    
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MeSH Terms
Biopterin / deficiency
Follow-Up Studies
Galactosemias / epidemiology
Histidine / blood
Homocystinuria / epidemiology
Infant, Newborn
Maple Syrup Urine Disease / epidemiology
Mass Screening*
Metabolism, Inborn Errors / diet therapy,  epidemiology*,  psychology
Phenylalanine / blood
Phenylketonurias / epidemiology
Reg. No./Substance:
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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