Pyridoxine-Dependent Seizures

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Pyridoxine-Dependent Seizures is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Pyridoxine-dependent seizures (PDS) is a rare cause of stubborn, difficult to control, (intractable) neonatal seizures, of which more than 100 cases have now been reported in the medical literature. PDS presents in a variety of forms with variable signs and symptoms (phenotypically heterogeneous). The one clinical feature characteristic of all patients with PDS is intractable seizures that are not controlled with anticonvulsants but which do respond both clinically and on EEG (electroencephalographically) to large daily supplements of pyridoxine. These patients are not pyridoxine-deficient. They are metabolically dependent on the vitamin. In other words, without supplemental pyridoxine, the patient's blood level of pyridoxine is normal but the patient will experience seizures. With supplemental pyridoxine, the patient's pyridoxine blood is normal or elevated, but the patient will not experience seizures. Pyridoxine therapy will be required for life.
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Resources

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: info@efa.org
Internet: http://www.epilepsyfoundation.org

American Epilepsy Society
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7505
Fax: (860)586-7550
Email: jamsden@aesnet.org
Internet: http://www.AESnet.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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