[Preliminary results with the rapid fluorescence test (Weidemann) as mass screening procedure for galactosaemia in newborn infants (author transl)]

Abstract

A fluorescence test was introduced in October 1974 as a screening procedure for galactosaemia in newborn infants and has been performed parallel with the Guthrie test. It is simple faster, but less sensitive (lower limit: 30 mg% galactose) than the Guthrie test. The fluorescence test provides a time saving of 1 1/2 days (3 1/2 days at weekends) which is of great importance in the diagnosis of this frequently fulminant illness. A further advantage is the high substrate specifity. One case of galactosaemia was diagnosed and only 1 false positive result was obtained amongst 50.000 screened infants, in comparison with 14 false positive results (greater than of equal to 30mg% galactose) with the Guthrie test. Of the 21 cases of galactosaemia detected to date by means of the mass screening programme 18 were due to transferase deficiency and two thirds of these cases ran a fulminant course. Initial blood galactose levels of greater than or equal to 50 mg% were registered in nearly all the cases of galactosaemia but levels of greater than or equal to 30mg% were found in 2 infants. The fluorescence test is a valuable supplementary screening test for galactosaemia but cannot replace the sensitive Guthrie test.