Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation

Stanley H. Korman, Avihu Boneh, Akiko Ichinohe, Kanako Kojima, Kenichi Sato, Zivanit Ergaz, John M. Gomori, Alisa Gutman, Shigeo Kure

Research output: Contribution to journalArticlepeer-review

36 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)139-143
Number of pages5
JournalAnnals of Neurology
Volume56
Issue number1
DOIs
Publication statusPublished - 2004 Jul 1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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