A simple spot screening test for galactosemia.

Abstract

Abstract A new screening technique is described for the identification of individuals with galactosemia (galactose-1-phosphate uridyl transferase deficiency). The technique depends upon the addition of one volume of blood to 10 volumes of reaction mixture, incubation, and spotting on filter paper. Normal samples are characterized by the appearance of bright fluorescence when examined under long-wave ultraviolet light, representing the reduction of TPN. No such fluorescence develops when galactosemic samples are examined. Individuals with partial enzyme deficiency including heterozygotes for galactosemia, heterozygotes for the Duarte variant, or homozygotes for the Duarte variant show delayed appearance of fluorescence. This test should be suitable for mass screening for galactosemia.