If you have signed up and received login details, you can enter the registry directly via the link below.

Read more on the registry and how you can participate.
Acccess PDE Registry
  • Research Database
  • PDE Recommendations
  • PDE diet App
  • Mission
  • Articles
Tab 1
The international registry for patients with pyridoxine-dependent epilepsy, which wil allow us to:
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collect important information on symptoms, genetics, outcomes
better unravel PDE disease mechanisms
understand the effect of current therapies
develop new treatment strategies
make meaningful connections in the PDE community
Tab 2
Consensus Recommendations for the Lysine-Restricted Diet (treatment & monitoring)
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published in Journal of Inherited Metabolic Diseases Reports 2014 (April 19 issue)
authored by more than 15 scientists and clinicians with expertise in PDE
Tab 3
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to support patients, caregivers and professionals in implementation of the lysine-restricted diet
freely accessible via internet
features include: searchable food database, export food records, smart nutrient calculator etc.
Diet app uses the Metabolic Pro database (Genetic Dieticians Metabolic International)
Tab 4
It's our mission to:
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ensure that every child with PDE is diagnosed and treated early
improve treatment such that every affected child’s outcome is optimized
Tab 5

The international registry for patients with pyridoxine-dependent epilepsy is now online. Find out how you can help:

Healthcare providers
Patients

Introduction

Pyridoxine-dependent epilepsy (PDE) is a rare yet causally treatable metabolic epilepsy (incidence 1:20.000 to 1:200.000, depending on screening / diagnostic approach and geographic location). The disease is characterized by intractable seizures that do not respond to conventional antiepileptic medications, but are often controlled by daily high doses of vitamin B6 (pyridoxine). Even with early diagnosis and B6 treatment, however, outcomes are often poor; 80% of these children still suffer developmental delay and intellectual disability.

PDE has recently been elucidated as a cerebral organic aciduria and ongoing neurotoxicity despite vitamin B6 dosages may explain these poor outcomes. Antiquitin (ATQ) or the ALDH7A gene (see Gene Reviews or OMIM for details), encodes an enzyme in the lysine degradation pathway named α-amino adipic semi-aldehyde dehydrogenase. Deficiency of this enzyme leads to accumulation of chemical substances -called AASA, P6C and pipecolic acid- that are neurotoxic causing developmental and cognitive deficits.

Understanding the pathophysiology of PDE provides 2 major advances:
  1. improved diagnostics through screening intractable epilepsy patients with specific and sensitive biomarkers (e.g. urinary AASA) is now possible;
  2. a new target for therapeutic intervention has become apparent: the lysine degradation pathway.
Just as a modified diet or substrate inhibition significantly improves the outcomes for children diagnosed with Phenylketonuria (PKU) and Glutaric Aciduria type I, a similar approach for PDE -targeting the lysine pathway in this case- offers the promise of similar dramatic improvements in outcome.
Indeed, our proof-of-principle study
(van Karnebeek, Hartmann et al; manuscript in preparation) shows very promising results.

Not only was the diet found to be well-tolerated and safe, it also led to a reduction of neurotoxic biomarkers and improved seizure control, behavior and psychomotor development. Yet the evidence is still limited and there is a need for more data on the effects and outcomes of this potentially burdensome therapy.

As with other rare diseases, the bottleneck to discovery is the number of patients involved. A PDE-Registry has thus been set up to bring patients, their families and committed professionals together to promote information exchange and to facilitate the involvement of more patients in various diagnostic and treatment trialsall aimed at collaboratively improving outcomes for PDE patients.
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Contact us: ObscureMyEmail

This initiative is part of a larger project titled the ‘Treatable Intellectual Disability Endeavour in British Columbia’ (TIDE-BC). It is the aim of this project to create a Best Care Practice to enhance diagnosis and treatment of rare diseases such as PDE and the more than 80 other treatable inborn errors of metabolism which cause intellectual disability and/or epilepsy.
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