PDE

This lecture will focus on newborn screening for PDE including data from pilot screening and how PDE meets Wilson Jungner screening criteria

This lecture highlights therapeutic advances for this rare but treatable disorder.

This review discusses the advances in diagnosis and treatment for patients with pyridoxine-dependent epilepsy since the initial case description 70 years ago.

In this international cohort study, we demonstrated that treatment with pyridoxine and lysine reduction therapy started in the first six months of life is associated with a significant increase in developmental test scores (21.9 points 95th CI 1.7 to 42.0)

This commentary argues that pyridoxine-dependent epilepsy (PDE-ALDH7A1) meets the classic criteria for newborn screening and should be considered for addition to current screening programs.

This case series reports the clinical outcomes in 11 adults with PDE-ALDH7A1, which furthers our understanding of this treatable disorder.

These clinical observations highlight the importance of evaluating patients for PDE-ALDH7A1 in the setting of seizures of unknown origin with partial or no response to common anti-epileptic medication.

This case series describes the clinical outcome in 18 families with PDE-ALDH7A1 and demonstrates that early in life, even antenatal, treatment with pyridoxine is not sufficient for normal development.