PDE – lysine restriction — RACP Paediatrics MCQ

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HardGeneticsPDE – lysine restrictionRACP Paediatrics

A neonate with seizures has pyridoxine-responsive seizures confirmed. However, on pyridoxine alone, seizures recur. Plasma pipecolic acid is elevated and urine alpha-aminoadipic semialdehyde is elevated. What additional treatment is needed?

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Correct answer: A — Stop protein intake + IV dextrose

Pyridoxine-dependent epilepsy (PDE) is caused by ALDH7A1 mutations leading to accumulation of alpha-aminoadipic semialdehyde. While pyridoxine controls seizures, neurodevelopmental outcomes may be improved by dietary lysine restriction (the precursor to the toxic metabolites) in addition to pyridoxine. Folinic acid-responsive seizures (a related condition) should also be considered.

Reference: RACP Paediatric Curriculum – Metabolic/Neurology; RCH Melbourne – 2023