SCREENING FOR GALACTOSEMIA IN GREECE

Galactosaemia appears to be one of the most appropriate disorders for routine newborn screening as almost normal outcome can be achieved in most of the identified cases. Galactose and galactose-1-phosphate were determined using Guthrie cards in a commercial kit based on a colorim etric microassay. Among 199 642 newborns, nine cases with classic gala ctosaemia, three with epimerase deficiency, six with compound Duarte(2 )/heterozygotes for galactosaemia and four with compound(2) Duarte hom ozygosity were found. Even though the number found among the screened neonates is small because it is such a rare disease, our results indic ate one of the highest frequencies of the disease ever reported.