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PDE – lysine restriction — RACP Paediatrics MCQ

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HardGeneticsPDE – lysine restrictionRACP Paediatrics

A neonate with refractory seizures has normal metabolic screen, normal MRI. Standard AEDs failed. Empirical pyridoxine trial dramatically stops seizures. Elevated AASA and pipecolic acid. What additional dietary intervention improves outcomes?

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

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Correct answer: A — Stop protein + IV dextrose

PDE (ALDH7A1 mutations): pyridoxine controls seizures but dietary lysine restriction (precursor to toxic metabolites) may improve neurodevelopmental outcomes.

Reference: RACP Paediatric Curriculum – Metabolic/Neurology