Galactose and galactose-1-phosphate spot test for galactosemia screening.

A simple spot test to measure galactose and galactose-1-phosphate in blood-impregnated filter paper was studied as a screening test for galactosemia in the newborn. A 3-mm disc punched from blood-impregnated filter paper card was fixed with acetone-methanol and incubated in a reaction mixture containing galactose dehydrogenase and alkaline phosphatase. This reaction mixture was then spotted on DEAE-cellulose paper, dried, and observed under a UV-lamp. The minimum amount of galactose detected by this procedure was 2 mg/dl. Estimation of galactose and galactose-1-phosphate with this procedure correlated well with estimation by bacterial assay.