A rare case of glycine encephalopathy unveiled by valproate therapy

被引:3
|
作者
Subramanian, Velusamy [1 ]
Kadiyala, Pramila [3 ]
Hariharan, Praveen [4 ]
Neeraj, E. [2 ]
机构
[1] Stanley Med Coll, Dept Paediat Neurol, Inst Social Paediat, Madras, Tamil Nadu, India
[2] Stanley Med Coll, Dept Paediat, Inst Social Paediat, Madras, Tamil Nadu, India
[3] Madras Med Coll & Govt Gen Hosp, Dept Biochem, Inst Child Hlth, Madras, Tamil Nadu, India
[4] Stanley Med Coll, Chennai, Tamil Nadu, India
关键词
Glycine encephalopathy; nonketotic hyperglycinemia; organic acidemia; recurrent seizures; valproate;
D O I
10.4103/1817-1745.159200
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.
引用
收藏
页码:143 / 145
页数:3
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