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

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Neurology Wiley

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

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Publisher
Wiley
Copyright
Copyright © 2004 American Neurological Association
ISSN
0364-5134
eISSN
1531-8249
DOI
10.1002/ana.20159
Publisher site
See Article on Publisher Site

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. Ann Neurol 2004;56:139–143

Journal

Annals of NeurologyWiley

Published: Jul 1, 2004

References

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