PEDIATRICS Vol. 81 No. 2 February 1988, pp. 328
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Galactosemia—To Screen or Not to Screen?

RUTH C. HARRIS MD1

1 Department of Pediatrics, Marshall University School of Medicine, Huntington, WV 25701

In Reply.—

Norway has discontinued galactosemia screening because only 1 case has been identified per 96,000 infants screened. Members of a recent workshop on galactose screening1 in the United States reported that 37 states had an average incidence of 1:62,000 or 312 cases identified per 19 million infants screened. However, there was an incidence range from 1:30,000 to 1:191,000 from state to state.

Those states using both an enzyme assay and a measure of galactose content in the blood identified more enzyme defects, and, in general, laboratories with the longest experience appeared to be better able to recognize abnormalities in the screens.




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[Abstract] [Full Text]