Pyridoxine-dependent seizure

A pyridoxine-dependent seizure is a manifestation of a rare neurometabolic disorder, most commonly pyridoxine-dependent epilepsy, characterized by recurrent, medically intractable seizures that primarily present in neonates and young infants The condition predominantly affects the central nervous system and is most frequently caused by autosomal recessive mutations in the *ALDH7A1* gene encoding antiquitin This deficiency leads to the accumulation of lysine degradation intermediates that chemica...

A pyridoxine-dependent seizure is a manifestation of a rare neurometabolic disorder, most commonly pyridoxine-dependent epilepsy, characterized by recurrent, medically intractable seizures that primarily present in neonates and young infants The condition predominantly affects the central nervous system and is most frequently caused by autosomal recessive mutations in the *ALDH7A1* gene encoding antiquitin Clinically, these seizures—which often present as prolonged convulsions or status epilepti...

This deficiency leads to the accumulation of lysine degradation intermediates that chemically inactivate pyridoxal 5'-phosphate, an essential cofactor in central neurotransmitter synthesis such as gamma-aminobutyric acid

Clinically, these seizures—which often present as prolonged convulsions or status epilepticus—are refractory to standard antiseizure medications but rapidly resolve following the administration of pharmacological doses of pyridoxine