Estimation of Frequency of Occurrence of Galactosemia in the Population

Abstract

From estimates of galactose-1-phosphate uridyl transferase levels in red cells it has been estimated that galactosemia in humans may occur as frequently as 1 in 18,000 births. Since galactosemic hetero-zygotes are generally asymptomatic the identification of a heterozygote of maternal origin among the mentally retarded suggests the possibility that the symptomology may have resulted from inadequate metabolism of ga-lacose by the mother during maternity.