Enzyme testing will be done. Screening is best done after the infant has received a milk feeding. Infants who need a transfusion or antibiotics should be screened prior to instituting these therapies. The galactosemia syndromes are treated by exclusion of lactose and galactose from the diet and should be done in consultation with a pediatric metabolic specialist. Soy formula is used.
Parents require education in assessing food labels and in food preparation.
Families with galactosemia should be referred for genetic counseling. However, total elimination of dietary galactose does not ensure full normalcy, since galactose can be produced in the body from glucose. Some individuals may evidence mental decline, hyperactivity, or speech and language defects. Developmental assessment should be closely monitored. Ovarian dysfunction is observed in some women.