πŸ“˜ Pyridoxine-Dependent Epilepsy (PDE) Β· Antiquitin Deficiency

Nelson Textbook of Pediatrics 22nd Ed β€” Section 105.14 (Lysine Disorders). ALDH7A1 mutations β†’ antiquitin deficiency β†’ seizures in neonates/infants that dramatically respond to IV pyridoxine. Diagnosis: elevated AASA and pipecolic acid. Treatment: lifelong pyridoxine Β± lysine-restricted diet.

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πŸ“‹ 30 Clinical Scenarios β€” Pyridoxine-Dependent Epilepsy (FCPS level)

πŸ“‡ High‑Yield Review Cards (Pyridoxine-Dependent Epilepsy)

🩺 Symptom‑Based Approach: Suspected Pyridoxine-Dependent Epilepsy

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πŸ“‹ Emergency & Long-term Management of PDE

    ⚑ Reflex Prompts β€” Clinical Decisions in PDE

    πŸ“– Summary: Pyridoxine-Dependent Epilepsy β€” Nelson 22nd Ed