Fluorometric screening procedure for galactosemia utilizing the autoanalyzer.

Abstract

A screening procedure is described which can be used to separate the great majority of normal persons from those with a lack of the enzyme galactose transferase. The method is designed to be used on dried blood spot eluates which remain after a phenylalanine determination has been performed. The optimum conditions for this test are described, and data are presented from a preliminary study of more than a thousand infants and several confirmed galactosemics.