Maple Syrup Urine Disease — RACP Paediatrics MCQ

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ModerateGenetics & MetabolicMaple Syrup Urine DiseaseRACP Paediatrics

A 3-day-old neonate presents with poor feeding, vomiting, lethargy, and a 'sweet maple syrup' odour. Plasma amino acids show markedly elevated leucine, isoleucine, and valine. What is the diagnosis?

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Correct answer: E — Maple syrup urine disease

Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. It presents in the neonatal period with poor feeding, lethargy, distinctive sweet odour, and progressive encephalopathy. The diagnosis is confirmed by elevated plasma branched-chain amino acids (leucine, isoleucine, valine). Acute management includes removal of leucine from feeds and dialysis if levels are dangerously elevated.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine