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Galactosaemia — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicGalactosaemiaRACP Paediatrics

A 4-year-old with bilateral cataracts, hepatomegaly, and jaundice in the neonatal period. He has intellectual disability. Urine reducing substances are positive (non-glucose). What is the diagnosis?

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Correct answer: A — Galactosaemia

Classic galactosaemia presents with cataracts, hepatomegaly, jaundice, and E. coli sepsis in neonates. Urine shows non-glucose reducing substances (galactose). Treatment is lifelong galactose-free diet.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine