吡哆醇(胺)氧化酶缺乏的研究进展_Journal of Epilepsy

Authors：

 周昀箐 , 张雅雯 ,  王纪文

上海交通大学附属上海儿童医学中心神经内科(上海, 200127);

Corresponding author：

王纪文, Email: wangjiwen_99@hotmail.com

Keywords：

吡哆醇(胺)氧化酶; 吡哆醛; 吡哆醇; 癫痫性脑病; 新生儿癫痫

DOI：

10.7507/2096-0247.20160075

Video：

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Abstract Full text Figures/Tables Video References Cited by

吡哆醇(胺)氧化酶(Pyridox(am)ine-5-phosphate oxidase, PNPO)缺乏是一种由编码PNPO的PNPO基因突变引起的罕见常染色体隐性遗传的先天性代谢缺陷, 其典型临床表现是新生儿癫痫性脑病, 抗癫痫药物治疗无效, 磷酸吡哆醛或吡哆醇可改善症状, 目前尚无特异性生物化学标志物, 确诊需要检测PNPO基因。PNPO缺乏作为一种可治疗的潜在病因, 应包含在大田原综合征和新生儿肌阵挛性脑病的鉴别诊断中。未经磷酸吡哆醛或吡哆醇治疗的PNPO缺乏患儿可导致早期死亡, 而早期正确治疗者神经发育可正常。

Citation： 周昀箐, 张雅雯, 王纪文. 吡哆醇(胺)氧化酶缺乏的研究进展. Journal of Epilepsy, 2016, 2(5): 422-425. doi: 10.7507/2096-0247.20160075 Copy

1.	Jaeger B, Abeling NG, Salomons GS, et al. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation. Mol Genet Metab Rep, 2016, 10(6):60-63.
2.	Albersen M, Bosma M, Jans JJ, et al. Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One, 2015, 10(3):e0120972.
3.	Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol, 2002, 26(2):146-147.
4.	Mills PB, Surtees RA, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine-5-phosphate oxidase. Hum Mol Genet, 2005, 14(8):1077-1086.
5.	Guerin A, Aziz AS, Mutch C, et al. Pyridox(am)ine-5-Phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression:Case Report and Review of the Literature. J Child Neurol, 2015, 30(9):1218-1225.
6.	Plecko B. Pyridoxine and pyridoxalphosphate-dependent epilepsies. Handb Clin Neurol, 2013, 113(5):1811-1817.
7.	Levtova A, Camuzeaux S, Laberge AM, et al. Normal cerebrospinal fluid pyridoxal 5'-Phosphate level in a PNPO-Deficient patient with neonatal-onset epileptic encephalopathy. JIMD Rep, 2015, 22(7):67-75.
8.	Sudarsanam A, Singh H, Wilcken B, et al. Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. JIMD Rep, 2014, 17(3):67-70.
9.	Coman D, Lewindon P, Clayton P, et al. PNPO Deficiency and Cirrhosis:Expanding the Clinical Phenotype?. JIMD Rep, 2015, 25(10):71-75.
10.	Ware TL, Earl J, Salomons GS, et al. Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. Dev Med Child Neurol, 2014, 56(5):498-502.
11.	Plecko B, Paul K, Mills P, et al. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 2014, 82(16):1425-1433.
12.	Mills PB, Camuzeaux SSM, Footlitt EJ, et al. Epilepsy due to PNPO mutations:genotype environment and treatment effect on presentation and outcome. Brain, 2014, 137(Pt 5):1350-1360.
13.	Pearl P, Gospe S. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy:the distinction just got murkier. Neurology, 2014, 82(16):1392-1394.
14.	Goyal M, Fequiere PR, Fequiere PR, et al. Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. Pediatr Neurol, 2013, 48(3):227-231.
15.	Footitt EJ, Clayton PT, Mills K, et al. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. J Inherit Metab Dis, 2013, 36(1):139-145.
16.	Hatch J, Coman D, Clayton P, et al. Normanl neurodevelopmental outcomes in PNPO deficiency:A case series and literature review. JIMD Rep, 2016, 26:91-97.
17.	Ware TL, Pitt J, Freeman J. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 2015, 84(3):329.
18.	杨志仙, 秦炯.吡哆醇依赖性癫痫的临床及分子遗传学研究进展.中华儿科杂志, 2013, 51(11):867-870.
19.	Ohtahara S, Yamatogi Y, Ohtsuka Y. Vitamin B6 treatment of intractable seizures. Brain Dev, 2011, 33(9):783-789.

1. Jaeger B, Abeling NG, Salomons GS, et al. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation. Mol Genet Metab Rep, 2016, 10(6):60-63.
2. Albersen M, Bosma M, Jans JJ, et al. Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One, 2015, 10(3):e0120972.
3. Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol, 2002, 26(2):146-147.
4. Mills PB, Surtees RA, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine-5-phosphate oxidase. Hum Mol Genet, 2005, 14(8):1077-1086.
5. Guerin A, Aziz AS, Mutch C, et al. Pyridox(am)ine-5-Phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression:Case Report and Review of the Literature. J Child Neurol, 2015, 30(9):1218-1225.
6. Plecko B. Pyridoxine and pyridoxalphosphate-dependent epilepsies. Handb Clin Neurol, 2013, 113(5):1811-1817.
7. Levtova A, Camuzeaux S, Laberge AM, et al. Normal cerebrospinal fluid pyridoxal 5'-Phosphate level in a PNPO-Deficient patient with neonatal-onset epileptic encephalopathy. JIMD Rep, 2015, 22(7):67-75.
8. Sudarsanam A, Singh H, Wilcken B, et al. Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. JIMD Rep, 2014, 17(3):67-70.
9. Coman D, Lewindon P, Clayton P, et al. PNPO Deficiency and Cirrhosis:Expanding the Clinical Phenotype?. JIMD Rep, 2015, 25(10):71-75.
10. Ware TL, Earl J, Salomons GS, et al. Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. Dev Med Child Neurol, 2014, 56(5):498-502.
11. Plecko B, Paul K, Mills P, et al. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 2014, 82(16):1425-1433.
12. Mills PB, Camuzeaux SSM, Footlitt EJ, et al. Epilepsy due to PNPO mutations:genotype environment and treatment effect on presentation and outcome. Brain, 2014, 137(Pt 5):1350-1360.
13. Pearl P, Gospe S. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy:the distinction just got murkier. Neurology, 2014, 82(16):1392-1394.
14. Goyal M, Fequiere PR, Fequiere PR, et al. Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. Pediatr Neurol, 2013, 48(3):227-231.
15. Footitt EJ, Clayton PT, Mills K, et al. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. J Inherit Metab Dis, 2013, 36(1):139-145.
16. Hatch J, Coman D, Clayton P, et al. Normanl neurodevelopmental outcomes in PNPO deficiency:A case series and literature review. JIMD Rep, 2016, 26:91-97.
17. Ware TL, Pitt J, Freeman J. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 2015, 84(3):329.
18. 杨志仙, 秦炯.吡哆醇依赖性癫痫的临床及分子遗传学研究进展.中华儿科杂志, 2013, 51(11):867-870.
19. Ohtahara S, Yamatogi Y, Ohtsuka Y. Vitamin B6 treatment of intractable seizures. Brain Dev, 2011, 33(9):783-789.

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吡哆醇(胺)氧化酶缺乏的研究进展

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