Classic galactosemia (GALT) - Diseases and Conditions Identified in Children

Classic galactosemia (GALT)


Classic galactosemia (GALT) is an inborn error of metabolism, an inherited condition in which an enzyme, galactose-1-phosphate uridyltransferase (GALT), in the body is either missing or not working well. In classic galactosemia, a sugar (called galactose) is not able to be broken down properly and it builds up in the body. Galactose is found in milk and all foods that contain milk, some other types of foods and even some medications. Galactose is also made by a person’s own body. If classic galactosemia is not treated, it can quickly lead to feeding problems, vomiting, failure to grow as expected, jaundice, liver damage, bleeding problems, extreme tiredness/lethargy, serious infection, cataracts, and/or other complications and can be life-threatening. Immediate dietary treatment is needed to remove as much galactose from the diet as possible. Even with early detection and treatment, longer-term complications may still occur but are hard to predict and can vary from person to person. However, early detection and intervention can benefit children with this condition. Support groups are available to help connect families living with classic galactosemia with others who have experience or expertise with this condition.

This condition is also known as: GALT deficiency, galactose-1-phosphate uridyltransferase deficiency, galactosemia.

To learn more about classic galactosemia, visit Baby's First Test: Classic galactosemia. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.