Galactosemia

Classic galactosemia is an inherited disorder due to the deficiency of galactose-1-phosphate uridyltransferase (GALT).

If an infant with galactosemia is given cow’s milk, cow’s milk formula, breast milk, or any product that contains lactose, substances from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes. The classical form detected by newborn screening (NBS) can lead to cataracts, liver cirrhosis, intellectual disability, and/or death. It is a condition that can kill quickly and must be treated as a medical emergency.

Follow-up testing for classical galactosemia varies by state, but can include repeat GALT testing (biochemical and/or molecular) and galactose-1-phosphate (g-1-P) testing. Some states also require rescreening for two related diseases: galactokinase deficiency and galactose epimerase deficiency. Testing can involve a cooperative approach between the state lab, metabolic subspecialist, and PCP.