pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy is a rare neurometabolic condition that mainly affects infants. It is characterized by recurrent seizures that can begin before birth (in the prenatal period), during the newborn phase (neonatal), or later in infancy (postnatal). These seizures do not respond well to common anti-epileptic drugs but are known to improve when treated with high, pharmacological doses of pyridoxine (vitamin B6). This condition, also known by synonyms such as antiquitin deficiency and AASA dehydrogenase deficiency, is recognized for its unique response to vitamin B6. People with this condition experience seizures that are otherwise difficult to control with standard medications, making the response to pyridoxine an important aspect of both diagnosis and management.

The most common symptom of pyridoxine-dependent epilepsy is recurrent, difficult-to-control seizures starting from the prenatal period through early infancy. These seizures are generally resistant to typical anti-epileptic drugs but may improve with vitamin B6 treatment. Information about any additional symptoms or signs beyond the seizures is currently limited.

Information about causes is currently limited for this condition.

Treatment for pyridoxine-dependent epilepsy generally involves using pharmacological doses of pyridoxine (vitamin B6) to help control seizures. This approach is based on the observation that seizures in this condition respond well to vitamin B6. Details on treatment plans and dosages are managed by healthcare providers based on individual needs.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.