Last 17th of November 2022 a Dutch online medical talkshow MEDtalks discussed the latest developments that were presented at the biggest conference for metabolic disorders - Society for Study of Inborn Errors of Metabolism Annual Symposium (SSIEM) - that took place September 2022.

Lysine reduction therapies in Pyridoxin Dependent Epilepsy (PDE) were discussed by Dr. Maaike de Vries (pediatrician metabolic disorders, Radboudumc Nijmegen) and Annemiek van Wegberg (dietitian, Radboudumc Nijmegen).

Before PDE was discussed in more detail, Maaike de Vries presented a case of a newborn presenting with epilepsy. The viewers were asked if they would give this young patient a lysine-restricted diet if they notice the epilepsy completely stops with the administration of pyridoxine. Sixty-seven percent of the viewers answered ‘no’.

After a short overview of PDE by Annemiek van Wegberg, the dietary treatment, arginine supplementation and the effectiveness according to scientific studies were discussed. At the end, the viewers were asked if they think that PDE should be included in the newborn screenings program, the vast majority (95%) answered ‘yes’.

For more information please visit https://www.medtalks.nl/ssiem2022

On the photo from left to right: Annemiek van Wegberg, MSc - dietitian researcher, Radboudumc, Nijmegen; Dr. Maaike de Vries - pediatrician metabolic diseases, Radboudumc, Nijmegen; Tom van 't Hek - presenter / host; Dr. Margreet Wagenmakers - internist-endocrinologist, Erasmus MC, Rotterdam; Drs. Jan-Peter Kuipers - general practioner, Löwenberg & Kuipers, Bussum, the Netherlands.

Author; Annemiek van Wegberg