Galactosaemia Dietary Management — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicGalactosaemia Dietary ManagementRACP Paediatrics

A neonate has a positive newborn bloodspot screen for galactosaemia. He is currently breastfeeding. What immediate dietary change is required?

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Correct answer: D — Stop breastfeeding immediately and commence a soy-based formula (galactose-free)

Classic galactosaemia (GALT deficiency): all sources of galactose (including breast milk, standard infant formulas, and cow's milk) must be eliminated immediately. Soy-based formula is the standard replacement. Delayed treatment risks E. coli sepsis, liver failure, cataracts, and death.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Galactosaemia