EVALUATION OF A NATION‐WIDE NEONATAL METABOLIC SCREENING PROGRAMME IN SWEDEN 1965–1979

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Abstract
In Sweden, neonatal screening for phenylketonuria was started in 1965 and a total of 1,326,000 infants were studied up to 1979. During various periods of time, screening was also carried out for galactosemia, hereditary tyrosinemia, histidinemia and homocystinuria. In screening for phenylketonuria and galactosemia no false-negative results were obtained and the incidences were 1/30,850 and 1/81,000, respectively. In screening for hereditary tyrosinemia only 1 of 6 patients was identified by screening and the incidence was 1/106,710. Two cases of histidinemia were detected, which corresponds to an incidence of 1/36,840. Both children developed normally without any treatment. No child with homocystinuria was detected in the screened population of more than 300,000 newborn infants. A screening program involving phenylketonuria and galactosemia was considered to be optimal among the tested disorders.