Epilepsy, Pyridoxine Dependent

Alternative Names

  • EPD
  • Pyridoxine-Dependent Epilepsy
  • PDE
  • Pyridoxine Dependency with Seizures
  • AASA Dehydrogenase Deficiency
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

266100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q23.2

Description

Pyridoxine dependent seizures (PDE) consists of a group of rare disorders defined with intractable seizures that are refractory to treatment with anticonvulsants, but that respond dramatically to large supplements of pyridoxine or vitamin B6.

PDE is recognized as an autosomal recessive disorder, caused by mutations in the ALDH7A1 gene. This gene codes for an enzyme called antiquitin, whose major role is in lysine catabolism in the brain. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
266100.1.1TunisiaMaleYesYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013 Deceased affected ol...
266100.2.1TunisiaMaleYesYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013 Two deceased affecte...
266100.3United Arab EmiratesUnknown SeizureNM_001182.4:c.567_611delHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014
266100.4.1ArabMaleYes SeizureNM_001182.4:c.228+2T>AAutosomal, RecessiveMills et al. 2006 Brother of 266100.4....
266100.4.2ArabFemaleYes SeizureNM_001182.4:c.228+2T>AAutosomal, RecessiveMills et al. 2006 Sister of 266100.4.1
266100.5TunisiaMaleYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013
266100.6TunisiaMaleYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013
266100.7TunisiaMaleYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013
266100.8TunisiaMaleYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013
266100.9TunisiaMaleYes SeizureNM_001182.4:c.1364T>CHomozygousAutosomal, RecessiveTlili et al. 2013
266100.10LebanonMaleYes Global developmental delay; Seizure; EEG...NM_001182.4:c.239T>GHomozygousAutosomal, RecessiveHaidar et al, 2018; Jalkh et al. 2019

Other Reports

Lebanon

Naasan et al. (2009) reviewed electroencephalographic (EEG) tracings from four patients fulfilling the clinical criteria for PDE. 

Oman

Koul (2009) reported on a 10-year follow up of eight patients diagnosed with PDE from Oman. These patients included a family with four affected children. 

United Arab Emirates

Al-Shamsi et al. (2014) calculated the birth prevalence of Pyrodoxine-dependent seizures in the UAE to be less than 0.98 per 100,000.

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