Galactosemia

Classic galactosemia is a time-sensitive metabolic disorder in which an infant cannot safely process galactose, the sugar released when lactose is digested. Milk exposure can therefore turn an apparently well newborn into a child with vomiting, hypoglycemia, jaundice, liver injury, cataracts, neurologic injury, and possible sepsis. For the RPN, the decisive pattern is not simply feeding intolerance. It is a newborn or young infant with symptoms after milk exposure, or a positive heel-prick screen, who needs galactose exposure stopped immediately while confirmatory testing and metabolic consultation are arranged. A screen-positive result is not the final diagnosis, but waiting for confirmation before changing the feed can allow further toxic metabolite accumulation. The practical sequence is: stop contraindicated feeds, begin the lactose-free and galactose-restricted plan prescribed by the metabolic team, assess glucose and clinical stability, escalate urgently for illness, and support lifelong follow-up. Feeding changes, fluid selection, investigation, and treatment are carried out within provincial standards, employer policy, and prescriber or metabolic-service orders.