Galactosaemia — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicGalactosaemiaRACP Paediatrics

A newborn is found to have bilateral cataracts, hepatomegaly, and jaundice. Urine reducing substances are positive but urine glucose dipstick is negative. He is on breast milk feeds. What is the most likely diagnosis?

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Correct answer: D — Galactosaemia

Classic galactosaemia (galactose-1-phosphate uridylyltransferase deficiency) presents in the neonatal period with feeding difficulties, jaundice, hepatomegaly, cataracts, and E. coli sepsis. Urine reducing substances are positive (galactose is a reducing sugar) but urine glucose dipstick is negative (as galactose, not glucose, is present). Immediate cessation of galactose-containing feeds (breast milk, lactose-containing formula) is lifesaving.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine