Florida newborn screening for galactosemia

Abstract

Galactosemia, an inborn error of metabolism characterized by the inability to transform galactose-1-phosphate into glucose-1-phosphate, occurs in 1:50,000 live births. If not diagnosed and treated within the newborn period, it can lead to severe morbidity and mortality within a few weeks of life. All children in Florida are screened for this disorder by a fluorescence assay system to measure galactose-1-phosphate uridyltransferase (GALT) activity in a dried blood spot. Genetic factors and external forces can affect the activity of the GALT enzyme and lead to confusing results. Parents of infants heterozygous for galactosemia should be offered the opportunity for carrier detection. If both are carriers, genetic counseling should be provided.