Abstract
Background: Pyridoxine dependent epilepsy (PDE; OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ1-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5′-phosphate (PLP), the active form of pyridoxine. Individuals affected by ALDH7A1 deficiency show prenatal and postnatal seizures, which respond to oral pyridoxine but not to other pediatric antiepileptic drugs.
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