Pyridoxine dependent epilepsy (PDE)
is a rare genetic disorder caused by Antiquitin (ATQ) deficiency.Because people with PDE have problems with lysine breakdown, a lysine (protein) restricted diet has been added to regular medical treatment for PDE.
This App is designed to support families and children with PDE, treated with the lysine-restricted diet as add on therapy to vitamin B6.
What is PDE?
Pyridoxine dependent epilepsy (PDE) is a rare genetic disorder caused by Antiquitin (ATQ) deficiency. Read more on PDE here.
ATQ helps our bodies break down lysine (Lys). Lys is one of the important amino acid that we need to eat from protein in food. Protein is important for growth in children and health maintenance in adults.
Problems with the breakdown of Lys can prevent vitamin B6 (Vit B6) from working normally in the body.
Without Vit B6, toxins build up in the brain, which can lead to seizures and developmental delays.
Patients with this disorder experience seizures that cannot be controlled by regular anti-epileptic drugs. Read more here.
Therefore, doctors prescribe Vit B6 to patients with PDE, as it often helps to control seizures.
However, Vit B6 does not prevent developmental delays in over 75% of patients with PDE.
Why a diet?
Because people with PDE have problems with Lys breakdown, a Lys (protein) restricted diet has been added to regular medical treatment for PDE.
The PDE Consortium published a study showing favorable effects in 2012 and subsequently developed recommendations for its safe use in PDE patients.
The goal of the diet is to reduce the build up of toxins.
People living with PDE are prescribed their daily Lys and protein restriction by their doctor or dietitian. These daily goals often need to be changed based on each person’s nutritional needs and age requirements.
Since nutrition labels on foods do not list the Lys content, it is very difficult for families to track daily dietary Lys intake.
This App makes daily Lys counting and meal planning easier for people following low Lys diets.
For whom?
This App is designed to support families and children with PDE, treated with the Lys-restricted diet as add on therapy to Vit B6.
This App is not a substitute for the health care provided by your medical team!