Overview
Galactosemia at a Glance
Classic galactosemia is a time sensitive metabolic disorder in which an infant cannot safely process galactose, the sugar released when lactose is digested.
REx-PN
REx-PN
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, and immediately notify the prescriber and metabolic specialist if the infant is ill. Activate the rapid response or code team immediately for clinical instability. Feeding changes, fluid selection, investigation, and treatment are carried out within provincial standards, employer policy, and prescriber or metabolic-service orders.
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