Snapshot A two-week-old infant is brought to the emergency department because of diarrhea, poor feeding, abdominal distention, and vomiting for the past 3 days. Physical exam reveals a temperature of 39 deg Celsius, cataracts, hepatomegaly, and jaundice. The mother says the only change has been that she recently began giving him milk products. Introduction Autosomal recessive errors of galactose metabolism epidemiology Incidence is 1/62,000 births login to view 1 more bullet ETIOLOGY Genetics login to view 3 more bullets Presentation An infant with classic galactosemia appears login to view 7 more bullets Continued feeding of milk products to the infant leads to login to view 3 more bullets studies Widespread screening in newborns often leads to early diagnosis. Screen for login to view 2 more bullets Differential Hereditary fructose intolerance login to view 1 more bullet Galactokinase deficiency login to view 1 more bullet Treatment Treatment involves eliminating all sources of galactose in the diet login to view 4 more bullets Although a lactose-free diet often prevents acute toxicity, long-term complications are common including login to view 3 more bullets PROGNOSIS If diagnosis is made early and milk products are strictly avoided the prognosis is for a normal life Galactosemia (along with active substane use, active untreated tuberculosis, and ongoing chemotherapy) is a contraindication to breastfeeding. Without optimal treatment, the child remains physically stunted and mentally retarded login to view 2 more bullets