Pyridoxine-dependent epilepsy

Rare autosomal recessive disorder caused by ALDH7A1 mutations. Presents with neonatal and infant seizures resistant to standard antiepileptic therapy. High-dose pyridoxine (50–500 mg/day) is the only disease-modifying therapy.

ICD-10 G40.41 drug

Also known as: PDE, ALDH7A1 deficiency

Drugs used for this condition

APyridoxine (vitamin B6)First line · Vitamins. CoenzymePyridoxine 50–500 mg daily is the only disease-modifying therapy for the rare autosomal recessive pyridoxine-dependent epilepsy (ALDH7A1 mutations). A trial intravenous pyridoxine 100 mg with concurrent EEG monitoring is both diagnostic and therapeutic for resistant neonatal seizures. Therapy is lifelong. Brain 2021 provides international guidance.

How to read tiers A–F

Evidence tiers belong to the drug-indication pair, not to the drug as a whole: the same substance can be A for one condition and F for another.

AStrong evidence – first or second line in international guidelines
BRecommended in selected cases
CStudy data contradict each other
DBenefit not proven, no documented harm
FDocumented harm, or risk without benefit