An evaluation of galactosuria

Abstract

In a survey of 1,200 individuals, most of whom were mentally retarded children, 59 were found who consistently excreted galactose in the urine. By the use of test meals with different levels of galactose, it was found that in most instance the galactose excretion was attributable to physiologic variations of galactose utilization in individuals with a high consumption of milk. Tests done after a controlled, oral galactose load providede a more definitive sereening procedure than tests of random postprandial urine samples. Erythrocyte galactose-1-phosphate uridyl transferase activity was found to be low in 20 of 120 individuals on whom assays were performed. In a Negro family, 2 children with galactosemia were identified.