Open AccessA rare case of glycine encephalopathy unveiled by valproate therapy
Author(s) -
Velusamy Subramanian,
Pramila Kadiyala,
Praveen Hariharan,
E Neeraj
Publication year - 2015
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.159200
Subject(s) - hyperglycinemia , medicine , hypotonia , glycine cleavage system , glycine , encephalopathy , cerebrospinal fluid , pediatrics , endocrinology , biochemistry , amino acid , biology
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.