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Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
Author(s) -
Korman Stanley H.,
Boneh Avihu,
Ichinohe Akiko,
Kojima Kanako,
Sato Kenichi,
Ergaz Zivanit,
Gomori John M.,
Gutman Alisa,
Kure Shigeo
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20159
Subject(s) - hyperglycinemia , glycine , dup , glycine cleavage system , mutation , medicine , endocrinology , chemistry , biology , genetics , gene , amino acid , gene duplication
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine. Ann Neurol 2004;56:139–143