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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyridoxine-dependent epilepsy


Other Names for this Disease
  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
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Symptoms


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What symptoms are associated with pyridoxine-dependent epilepsy?

Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.[1]
Last updated: 7/23/2013

References
  1. Pyridoxine-dependent epilepsy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition=pyridoxinedependentepilepsy. Accessed 7/23/2013.