The article on "Galactosemia Screening of Newborns in Massachusetts" in this issue of the Journal not only adds to our knowledge of a rare disease but highlights many of the difficulties of large-scale screening of population groups for inherited diseases. During the two periods covered by this survey, samples were tested from a total of 374,341 newborns, and only two infants with galactosemia were discovered, both of whom died of Escherichia coli during the neonatal period. Galactosemia clearly is a very rare inborn error of metabolism, unlike phenylketonuria (PKU), which has an incidence of approximately one in every 10,000 babies. . . .
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Charles A. Janeway (1971) studied this question.