Kuo Meng-Fai, Wang Huei-Shyong
Division of Pediatric Neurosurgery, Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan.
Pediatr Neurol. 2002 Feb;26(2):146-7. doi: 10.1016/s0887-8994(01)00357-5.
We present a female infant with seizures responsive to pyridoxal phosphate but that are resistant to pyridoxine. The mechanism by which pyridoxal phosphate controls seizures in this patient is unknown. Her seizures are perhaps not solely caused by pyridoxal phosphate deficiency. It is suggested that in addition to glutamic acid decarboxylase abnormality, the path from the absorption, transportation, phosphorylation, and oxidation of pyridoxine to pyridoxal phosphate in this patient might be defective. It should be considered whether pyridoxal phosphate can be the drug of choice instead of pyridoxine in treating patients suspected of pyridoxine-dependent epilepsy to reduce failure rate and further delay in seizure control.
我们报告了一名患有癫痫发作的女婴，其发作对磷酸吡哆醛有反应，但对吡哆醇耐药。磷酸吡哆醛控制该患者癫痫发作的机制尚不清楚。她的癫痫发作可能并非仅由磷酸吡哆醛缺乏引起。提示该患者除谷氨酸脱羧酶异常外，吡哆醇从吸收、转运、磷酸化到氧化为磷酸吡哆醛的途径可能存在缺陷。在治疗疑似吡哆醇依赖性癫痫的患者时，应考虑磷酸吡哆醛是否可作为首选药物替代吡哆醇，以降低失败率并进一步减少癫痫控制的延迟。
