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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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Treatment

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How might pyridoxine-dependent epilepsy be treated?

Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food).[1][2] Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.[3]
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.
  2. Gospe SM. Pyridoxine-Dependent Seizures. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1486/. Accessed 7/23/2013.
  3. van Karnebeek CD et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44. .


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Other Names for this Disease
  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.