Newborn Galactosemia Screening

Newborn screening is part of the National Early Detection Program to detect galactosemia. This is an autosomal recessive genetic disorder of galactose metabolism, resulting from a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). If left untreated, it leads to the accumulation of toxic compounds that can cause liver failure, cataracts, and developmental delays.