Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
Open Access
- 19 April 2014
- book chapter
- research article
- Published by Springer Science and Business Media LLC in JIMD Reports
- Vol. 15, 1-11
- https://doi.org/10.1007/8904_2014_296
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, and may have beneficial effects on seizure control and psychomotor development. Methods: In analogy to the NICE guideline process, the international PDE Consortium, an open platform uniting scientists and clinicians working in the field of this metabolic epilepsy, during four workshops (2010–2013) developed a recommendation for a lysine-restricted diet in PDE, with the aim of standardizing its implementation and monitoring of patients. Additionally, a proposal for a further observational study is suggested. Results: (1) All patients with confirmed ATQ deficiency are eligible for adjunct treatment with lysine-restricted diet, unless treatment with pyridoxine alone has resulted in complete symptom resolution, including normal behavior and development. (2) Lysine restriction should be started as early as possible; the optimal duration remains undetermined. (3) The diet should be implemented and the patient be monitored according to these recommendations in order to assure best possible quality of care and safety. Discussion: The implementation of this recommendation will provide a unique and a much needed opportunity to gather data with which to refine the recommendation as well as improve our understanding of outcomes of individuals affected by this rare disease. We therefore propose an international observational study that would utilize freely accessible, online data sharing technologies to generate more evidence.This publication has 25 references indexed in Scilit:
- Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutationsMolecular Genetics and Metabolism, 2013
- Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC‐MS/MS methodJournal of Inherited Metabolic Disease, 2012
- Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiencyJournal of Inherited Metabolic Disease, 2012
- Cultural aspects in the management of inborn errors of metabolismJournal of Inherited Metabolic Disease, 2012
- Diagnosis and management of glutaric aciduria type I – revised recommendationsJournal of Inherited Metabolic Disease, 2011
- Use of guidelines improves the neurological outcome in glutaric aciduria type IAnnals of Neurology, 2010
- Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Brain, 2010
- Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registryEuropean Journal of Pediatrics, 2008
- Pyridoxine-dependent and pyridoxine-responsive seizuresDevelopmental Medicine and Child Neurology, 2001
- Pyridoxine-dependent seizures, clinical and therapeutic aspectsEuropean Journal of Pediatrics, 1991