期刊文献+

维生素B_6依赖性癫诊断及治疗研究进展

原文传递
导出
摘要 本文综述了维生素B_6依赖性癫(PDE)的致病机制、诊断和治疗方法。抑制性神经递质γ-氨基丁酸(GABA)缺乏是导致PDE发作的直接原因,而ALDH7A1基因突变引起的α-氨基己二酸半醛(α-AASA)脱氢酶形成受阻则是GABA缺乏的根本原因。PDE的临床表现为癫发作对常规抗癫药物不敏感,但对高剂量维生素B_6敏感,α-AASA和哌啶酸(PA)为诊断PDE的血清标志物。通过赖氨酸限制饮食可减少神经毒性物质的积聚,以改善神经发育迟滞问题,但该结论尚需长期临床研究证实。建议继续研究维生素B_6的安全使用剂量和赖氨酸限制饮食对于控制癫发作的疗效。
出处 《人民军医》 2017年第8期809-812,共4页 People's Military Surgeon
  • 相关文献

参考文献1

二级参考文献17

  • 1Hunt AD Jr, Stokes J Jr, Mcrory WW, et al. Pyridoxine dependency : report of a case of intractable convulsions in an infant controlled by pyridoxine [ J]. Pediatrics, 1954, 13 (2) : 140-145. 被引量:1
  • 2Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures [J]. Dev Meal Child Neurol, 2001,43(6) :416-420. 被引量:1
  • 3Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med, 2006, 12(3) :307-309. DOI:10. 1038/nm1366. 被引量:1
  • 4Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxinedependent epilepsy and mutations of the antiquitin ( ALDHTAI ) gene [ J ]. Hum Murat, 2007, 28( 1 ) :19-26. DOI: 10. 1002/humu. 20433. 被引量:1
  • 5Stockier S, Plecko B, Gospe SM Jr. Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up[J]. Mol Genet Metab, 2011 , 104(1-2) : 48-60. DOI: 10. 1016/i. vmume. 2011.05. 014. 被引量:1
  • 6Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH7A1 defieieney) [J]. Brain, 2010, 133: 2148-2159. DOI: 10. 1093/ brain/awq143. 被引量:1
  • 7Basura GJ, Hagland SP, Wiltse AM, et al. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures : review of 63 North American cases submitted to a patient registry[J]. Eur J Pediatr, 2009, 168(6) : 697-704. DOI: 10. 1007/s00431-008 -0823 -x. 被引量:1
  • 8Gospe SM Jr. Neonatal vitamin-responsive epileptic eneephalopathies[ J]. Chang Gung Med J, 2010, 33( 1 ) : 1-12. 被引量:1
  • 9Yang Z, Yang X, Wu Y, et al. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants [ J/OL ]. PLoS One, 2014, 9 (3) : e92803. (2014-03-24) [2016-01-01 ]. http://www, nebi. nlm. nih. gov/ pme/articles/PMC3963937/. DOI: 10. 1371/journal. pone. 0092803. 被引量:1
  • 10Xue J, Qian P, Li H, et al. A cohort study of pyridoxine- dependent epilepsy and high prevalence of splice site IVS11 + 1G > A mutation in Chinese patients[ J]. Epilepsy Res, 2015, 118 : 1-4. DOI: 10. 1016/j. eplepsyres. 2015.10. 002. 被引量:1

共引文献9

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部