skip to main content

Galactosaemia GALT deficiency — MRCPCH TAS MCQ

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

HardNutrition and metabolismGalactosaemia GALT deficiencyMRCPCH TAS

A 9-day-old develops vomiting, jaundice and hepatomegaly after milk feeding. Urine has reducing substances but glucose dipstick is negative. What is the most likely biochemical abnormality?

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

Reveal the answer and explanation

Correct answer: B — Galactose-1-phosphate uridyltransferase deficiency

Classic galactosaemia is caused by GALT deficiency, with accumulation of galactose-1-phosphate after lactose exposure. MCAD deficiency presents with fasting hypoketotic hypoglycaemia rather than neonatal jaundice after milk feeds. The pearl is that non-glucose reducing substances in urine can point towards galactose accumulation.

Reference: Nelson Textbook of Pediatrics; UK newborn screening resources; RCPCH Theory examination syllabi