Pyridoxine-dependent Epilepsy –⁠ Case Reports

Czech version

Authors: Š. Aulická ¹; L. Fajkusová ²; P. Šilerová ²; L. Elstnerová ³; T. Jimramovský ³; E. Dortová ⁴; H. Ošlejšková ¹
Authors‘ workplace: Centrum pro epilepsie Brno, Klinika dětské neurologie LF MU a FN Brno ¹; Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika LF MU a FN Brno ²; Pediatrická klinika LF MU a FN Brno ³; Neonatologické oddělení, FN Plzeň ⁴
Published in: Cesk Slov Neurol N 2017; 80/113(3): 346-349
Category: Case Report
doi: https://doi.org/10.14735/amcsnn2017346

Tento projekt byl podpořen Lékařskou fakultou Masarykovy Univerzity (číslo grantu ROZV/ 24/ / LF/ 2016).

Overview

Pyridoxine-dependent epilepsy is a rare autosomal recessive hereditary disorder causing severe intractable epileptic seizures presenting typically in prenatal and neonatal period, rarely in early infancy (age up to 3 years). Pyridoxine-dependent epilepsy, caused by metabolic disturbance of pyridoxine, is associated with mutations in the ALDH7A1 or ALDH4A1 gene. Pyridoxine-dependent epilepsy is successfully treatable using high doses of pyridoxine. The diagnosis is based on biochemical and genetic examinations. Three case reports of patients with a typical clinical course of pyridoxine-dependent epilepsy and genetically detected mutation in the ALDH7A1 gene are presented.

Key words:
pyridoxine –⁠ pyridoxal-phosphate –⁠ pyridoxine-dependent epilepsy –⁠ pyridoxine-dependent seizures

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Chinese summary -⁠ 摘要

吡哆素依赖性癫痫 -⁠ 病例报告

吡哆素依赖性癫痫是一种罕见的常染色体隐性遗传性疾病，导致严重顽固性癫痫发作，典型地出现在产前和新生儿期，很少在婴儿期（3岁以下）。由吡哆醇代谢紊乱引起的吡哆素依赖性癫痫与ALDH7A1或ALDH4A1基因突变有关。吡哆素依赖性癫痫可以使用高剂量的吡哆醇成功治疗。诊断是基于生物化学和遗传学检查。介绍了典型的吡哆醇依赖性癫痫临床病程和ALDH7A1基因遗传检测突变患者的病例报告。

关键词：

吡哆醇 -⁠ 吡哆醛 -⁠ 磷酸 -⁠ 吡哆素依赖性癫痫 -⁠ 吡哆醇依赖性癫痫发作

Sources

1. Parish A, Nissen MD, O’Neil C, et al. Vitamin B 6 Dependency Syndromes. eMedicine Paediatrics 2008. [accessed 2017 20 Mar]. Available from URL: http://emedicine.medscape.com/article/985667-overview.

2. Rusnáková Š, Fajkusová L, Jansová E, et al. Pyridoxin dependentní epilepsie –⁠ nové trendy v diagnostice a terapii. Neurol Praxi 2010;11(5):322 –⁠ 5.

3. Gospe SM. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Curr Opin Neurol 2006;19(2):148 –⁠ 53.

4. Plecko B, Paul K, Paschke E, et al. Bio chemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007;28(1):9 –⁠ 26.

5. Baxter P. Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biophys Acta 2003;1647(1 –⁠ 2):36 –⁠ 41.

6. Farrant RD, Walker V, Mills GA, et al. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem 2001;276(18):15107 –⁠ 16.