ArticleJIMD reports2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
Article in JIMD reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.Scientific reports · 2026Article
- Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review.Current developments in nutrition · 2025Review
- Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.BMC neurology · 2024Article
- Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency.Molecular genetics and metabolism reports · 2024Article
- Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.JIMD reports · 2024Article
- Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.Annals of the Child Neurology Society · 2023Article
- A case for newborn screening for pyridoxine-dependent epilepsy.Cold Spring Harbor molecular case studies · 2022Article
- Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.Brain sciences · 2021Review
- Metabolic Epilepsy.Indian journal of pediatrics · 2021Review
- A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.Human molecular genetics · 2020Article
- Metagenomics and Faecal Metabolomics Integrative Analysis towards the Impaired Glucose Regulation and Type 2 Diabetes in Uyghur-Related Omics.Journal of diabetes research · 2019Article
- Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Molecular genetics & genomic medicine · 2018Article
- Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.Metabolic brain disease · 2017Article
- Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.PloS one · 2017Article
- Pyridoxine-dependent epilepsy: report on three families with neuropathology.Metabolic brain disease · 2016Article
- Current treatment and management of pyridoxine-dependent epilepsy.Current treatment options in neurology · 2015Article
- Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.Journal of pediatric neurosciencesReview
- Pyridoxine Trial in Early Infantile Epileptic Encephalopathy: Never Forget!Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
24 authors at 15 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeventy-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.
methodsIn 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.
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