Update on the treatment of vitamin B6 dependent epilepsies

  title={Update on the treatment of vitamin B6 dependent epilepsies},
  author={Mario Mastrangelo and Serena Cesario},
  journal={Expert Review of Neurotherapeutics},
  pages={1135 - 1147}
ABSTRACT Introduction: Vitamin B6 dependent epilepsies are a group of treatable diseases (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5I-phosphate. Areas covered: A critical review was conducted on the therapeutic management of all the reported patients with genetically confirmed diagnoses of diseases affecting vitamin B6… Expand
3 Citations
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This review analyzes the epileptogenic mechanisms, the epilepsy phenotypes and the principle for the clinical management of epilepsy in primary and secondary inherited disorders of neurotransmitter metabolism (disorders of GABA, serine and glycine metabolism, disorders of serotonin receptors and secondary neurotransmitter diseases). Expand
Vitamin B6 as a novel risk biomarker of fractured ankles
  • Zhihao Li, Shaoan Zhang, +5 authors Jiankui Jiang
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The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System (Preprint)
BACKGROUND Genomic medicine is poised to improve care for common complex diseases such as epilepsy, but additional clinical informatics and implementation science research is needed for it toExpand


Current knowledge for pyridoxine-dependent epilepsy: a 2016 update
A comprehensive review of current treatment options as well as PDE phenotype, differential diagnosis, current management and views upon the future of PDE research are presented. Expand
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
The short-term treatment outcome of this novel L-arginine supplementation therapy for PDE-ALDH7A1 was successful for biochemical and neurocognitive improvements. Expand
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.
Lysine restriction resulted in decreased accumulation of PDE biomarkers and improved development, and the results further support the use of dietary therapies in combination with pyridoxine for the treatment of Pde. Expand
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatAsia (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency. Expand
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
PM concentrations and the PM/PA ratio clearly separated PNPO-deficient patients from the other cohorts, and represents a robust biomarker for the selective screening of PN PO deficiency. Expand
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE. Expand
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
An international observational study is proposed that would utilize freely accessible, online data sharing technologies to generate more evidence that will provide a unique and a much needed opportunity to gather data with which to refine the recommendation for a lysine-restricted diet. Expand
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
The clinical and electroencephalographic phenotype in patients with PROSC mutations was indistinguishable from ALDH7A1 and PNPO deficiency, and pyridoxine monotherapy allowed complete seizure control in one, while two patients had occasional febrile or afebrile seizures and one needed additional valproate therapy for photosensitive seizures. Expand
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
This observational study provides Level 4 evidence that lysine restriction is well tolerated with significant decrease of potentially neurotoxic biomarkers in different body compartments, and with the potential to improve developmental outcomes in children with PDE caused by ATQ deficiency. Expand
Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy
Adult neurologists should be aware that the diagnosis of PDE can be delayed and PDE should be considered in the differential diagnosis of adults with seizure disorders dating from childhood, as other disease manifestations can vary widely even within the same family. Expand