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Ann Neurol. 2004 Jul;56(1):139-43.

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

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1
Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. korman@hadassah.org.il

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.

PMID:
15236413
DOI:
10.1002/ana.20159
[Indexed for MEDLINE]
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