Pyridoxine-dependent epilepsy

Common Name(s)

Pyridoxine-dependent epilepsy, Pyridoxine-Dependent Seizures

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). 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). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion. .
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyridoxine-dependent epilepsy" for support, advocacy or research.

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Pyridoxine-Dependent Seizures Registry

The Pyridoxine-Dependent Seizures (PDS) Registry was developed to help clinicians and patients learn more about the variety of clinical presentations of PDS (also known as pyridoxine-dependent epilepsy), the response of the disorder to various dosage regimens of pyridoxine, the imaging and EEG characteristics of the disorder, and the long term developmental consequences of PDS.

http://faculty.washington.edu/sgospe/pyridoxine/

Last Updated: 23 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyridoxine-dependent epilepsy" for support, advocacy or research.

Logo
Pyridoxine-Dependent Seizures Registry

The Pyridoxine-Dependent Seizures (PDS) Registry was developed to help clinicians and patients learn more about the variety of clinical presentations of PDS (also known as pyridoxine-dependent epilepsy), the response of the disorder to various dosage regimens of pyridoxine, the imaging and EEG characteristics of the disorder, and the long term developmental consequences of PDS.

http://faculty.washington.edu/sgospe/pyridoxine/

Last Updated: 23 Oct 2012

View Details

 

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General Resources

Registry Web Site

Our web site describes the project along with background information regarding pyridoxine-dependent epilepsy.

Updated 23 Oct 2012

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Registry Web Site

Web site contains information regarding the registry project, as well as background information regarding pyridoxine-dependent seizures, its natural history and management.

Updated 23 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyridoxine-dependent epilepsy" returned 9 free, full-text research articles on human participants. First 3 results:

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
 

Author(s): Eduard Alexander Struys, Benjamin Nota, Abdellatif Bakkali, Saad Al Shahwan, Gajja Sophi Salomons, Brahim Tabarki

Journal: Pediatrics. 2012 Dec;130(6):e1716-9.

 

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased ...

Last Updated: 3 Dec 2012

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Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
 

Author(s): Saadet Mercimek-Mahmutoglu, Gabriella A Horvath, Marion Coulter-Mackie, Tanya Nelson, Paula J Waters, Michael Sargent, Eduard Struys, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu, Mary B Connolly

Journal: Pediatrics. 2012 May;129(5):e1368-72.

 

Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients ...

Last Updated: 2 May 2012

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Roth spots in pyridoxine dependent epilepsy.
 

Author(s): Levinus A Bok, Feico Halbertsma, Frank Kerkhoff, Cornelis Jakobs, Carola Duijsters, Michèl Willemsen

Journal:

 

Pyridoxine dependent epilepsy (PDE) is a rare metabolic defect in the degradation of lysine. The authors report a patient with metabolic and DNA confirmed PDE, on the fifth day of life ophthalmoscopy showed bilateral multiple white centred retinal haemorrhages, so called Roth spots. ...

Last Updated: 12 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyridoxine-dependent epilepsy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy Patients
 

Status: Not yet recruiting

Condition Summary: Pyridoxine Dependant Epilepsy

 

Last Updated: 23 Aug 2013

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