Vitamin B6 related epilepsy / 中华实用儿科临床杂志

ABSTRACT

Vitamin B6 related epilepsy is a group of epileptic diseases,seizures in which could not be con-trolled by antiepileptic drugs,but could be controlled or obviously improved by vitamin B6 .It comprises of pyridoxine dependent epilepsy and pyridoxine responsive epilepsy predominantly,and the latter includes vitamin B6 responsive in-fantile spasms,pyridox(am)ine -5′-phosphate oxidase (PNPO)deficiency,hyperphosphatasia mental retardation syndrome (Mabry syndrome)and so on.The clinical presentations of the diseases above are nonspecific,manifesting as refractory seizures onset in neonatal or infantile period,which need to be distinguished from other diseases such as new-born hypoxic ischemic encephalopathy,Ohtahara syndrome and non -ketotic hyperglycinemia.Pyridoxine dependent epilepsy,PNPO deficiency and Mabry syndrome have relative specific biomarkers and known disease -causing genes, which are helpful for diagnosis.It is suggested that pyridoxine or pyridoxal phosphate should be tried first for all patients started seizures early (including all infantile spasms patients),avoiding missing these diseases.And once diagnosed,vi-tamin B6 should be maintained long -term or all the life according to the detailed disease.