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...

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Bibliographic Details
Published in:Annals of neurology 2004-07, Vol.56 (1), p.139-143
Main Authors: Korman, Stanley H., Boneh, Avihu, Ichinohe, Akiko, Kojima, Kanako, Sato, Kenichi, Ergaz, Zivanit, Gomori, John M., Gutman, Alisa, Kure, Shigeo
Format: Article
Language:English
Subjects:
Adult
Amino Acid Oxidoreductases - genetics
Amino Acid Oxidoreductases - metabolism
Biological and medical sciences
Child, Preschool
DNA Mutational Analysis
Excitatory Amino Acid Antagonists - therapeutic use
Female
Glycine - metabolism
Glycine Dehydrogenase (Decarboxylating)
Humans
Hyperglycinemia, Nonketotic - diagnosis
Hyperglycinemia, Nonketotic - genetics
Hyperglycinemia, Nonketotic - physiopathology
Hyperglycinemia, Nonketotic - therapy
Infant, Newborn
Ketamine - therapeutic use
Magnetic Resonance Spectroscopy
Male
Medical sciences
Neurology
Pedigree
Point Mutation
Prognosis
Respiration, Artificial
Sodium Benzoate - therapeutic use
Treatment Outcome
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Summary: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
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.20159