Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Abstract

Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that adjunct treatment with a lysine-restricted diet is safe, results in partial normalization of lysine intermediates in body fluids,

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

“…In a previously reported case series, implementation of a lysine-restricted diet resulted in decreased plasma and urinary α-AASA levels and an improved developmental outcome [14]. As a result, a lysine-restricted diet has been recommended as adjunct therapy in PDE, and dietary guidelines have been developed by an international working group [15].…”

Refractory seizures in a term neonate due to pyridoxine dependent epilepsy

“…Studies on patients treated earlier suggest that they have higher functioning compared to those with later treatment [12]. A newer approach involves combining supplementation with pyridoxine, a lysine-restricted diet, and L-arginine supplementation [16][17][18].…”

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

“…Admittedly, the yield of second-tier tests depends on the expertise of the physician and familiarity with certain IEM. This is illustrated by pyridoxine-dependent epilepsy for which our center has an interest and therefore lower threshold screening [29]. Consequently, we created an app to increase awareness and access to knowledge of IEM (Fig.…”