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Phenylketonuria — RACP Paediatrics MCQ

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ModerateGenetics and metabolicPhenylketonuriaRACP Paediatrics

A newborn bloodspot screen suggests phenylketonuria. The baby is feeding well and examination is normal. Confirmatory plasma amino acids show markedly elevated phenylalanine. What is the most appropriate management?

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

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Correct answer: C — Start a phenylalanine-restricted diet under metabolic specialist care

PKU is treated before symptoms develop using dietary phenylalanine restriction supervised by a metabolic team. Early normal examination is expected because newborn screening aims to prevent neurotoxicity. Families need urgent dietetic support rather than unsupervised feeding changes.

Reference: Australian newborn bloodspot screening programme; RACP Knowledge Guides