Abstract
In Sweden nationwide neonatal screening for PKU was started in 1965 using filterpaper blood samples and Guthries microbiological technique.The screening program has since been expanded to include also galactosemia,tyrosinemia, homocystinuria and histidinemia.The blood samples were collected at 4-6 days of age.We have now evaluated the effectivness of the program in the time period 1965 to 1977.
The coverage has steadily increased and has exceeded 95% during the most recent years.The efficiency of the screening for PKU and galactosemia was considered to be high and continuation seems justified.One out of five patients with tyrosinemia was discovered by screening and the only known patient with homocystinuria was missed.In the screened population we don't know of any child with impared mental or physical development due to histidinemia. Screening for tyrosinemia,homocystinuria and histidinemia has since been discontinued in the Swedish screening program.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Alm, J., Larsson, A. A follow up of a nationwide neonatal metabolic screening program in Sweden. Pediatr Res 13, 79 (1979). https://doi.org/10.1203/00006450-197901000-00062
Issue Date:
DOI: https://doi.org/10.1203/00006450-197901000-00062