Pyridoxine responsive seizure is a rare seizure that is responsive to therapy with pyridoxine. This is one of the vitamin-responsive epilepsies.
Inheritance: autosomal recessive
Clinical features:
(1) early onset (neonatal, infantile) of recurrent, unprovoked seizures
(2) clinical improvement after therapy with large doses of pyridoxine
(3) variable intellectual disability
Affected patients have a mutation in ALDH7A1, resulting in low levels of antiquitin in the CSF.
Deficiency in antiquitin results problems in lysine degradation with accumulation of:
(1) alpha-aminoadipic semialdehyde
(2) piperideine-6-carboxylase
(3) pipecolic acid
The first few doses of pyridoxine may cause respiratory arrest so respiratory support should be available.
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Specialty: Neurology, Nutrition
