Children’s Mercy Hospitals and Clinics

Each one of the approximately 75,000 babies born each year in Missouri is tested for galactosemia, a genetic disorder of galactose metabolism caused by deficient activity of the enzyme galactosephosphate uridyltransferase (GALT). With early identification and a switch to a lactose-galactose restricted diet, complications of liver failure, sepsis, neonatal death, and mental retardation can be prevented. The incidence of true classic galactosemia in Missouri is about one in 40,000, according to state newborn screening laboratory data, meaning one to two affected babies per year are identified. Kansas also screens for galactosemia.