skip to main content

Galactosaemia — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGeneticsGalactosaemiaRACP Paediatrics

A 4-day-old neonate who was breastfeeding well develops jaundice, hepatomegaly, poor feeding, and E. coli sepsis. Reducing substances are positive in the urine. Liver function tests are markedly deranged. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Galactosaemia

Onset of symptoms after introduction of lactose-containing feeds (breast milk or formula), with jaundice, hepatomegaly, coagulopathy, E. coli sepsis, and positive urine reducing substances is characteristic of classic galactosaemia (galactose-1-phosphate uridylyltransferase deficiency). Immediate removal of galactose from the diet is lifesaving.

Reference: RACP Paediatric Curriculum – Metabolic; RCH Melbourne – 2023 – Metabolic Disease CPG