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Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1973 Feb 3;108(3):328–329.

PKU screening — Is it worth it?

The Advisory Committee on Inborn Errors of Metabolism to the Ministry of Health
PMCID: PMC1941175  PMID: 4691095

Abstract

Ontario's program for PKU screening of newborn infants reached 94.5% of the newborn population from 1966 to 1971. There were 70 infants identified by the program, 47 of whom were classical cases and 23 atypical cases of phenylketonuria. The incidence was 1:16,700 live births for classical cases and 1:34,000 live births for atypical cases. Since the beginning of the program 44 children have been identified in infancy as having PKU and have been treated successfully. Retardation has become evident in only three infants, two of whom were missed by the screening program.

The cost of identification and care of one child for five years is about $7000, much less than the $250,000 needed to provide lifetime institutional care for one severely retarded individual.

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