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

doi:10.1002/ana.20159

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	139-143
Number of pages	5
Journal	Annals of Neurology
Volume	56
Issue number	1
DOIs	https://doi.org/10.1002/ana.20159
Publication status	Published - 2004 Jul 1

ASJC Scopus subject areas

Neurology
Clinical Neurology

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AU - Korman, Stanley H.

AU - Boneh, Avihu

AU - Ichinohe, Akiko

AU - Kojima, Kanako

AU - Sato, Kenichi

AU - Ergaz, Zivanit

AU - Gomori, John M.

AU - Gutman, Alisa

AU - Kure, Shigeo

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

Abstract

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