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Early Myoclonic Encephalopathy and Nonketotic Hyperglycinemia
Pediatric Neurology , 10/20/09

Rossi S et al. – The neonatal form is a severe, frequently lethal neurologic disease. When associated with electro–clinical features, progressive lethargy and hypotonia occur in the first days of life, progressing to apnea and often death. Prospective treatment with oral sodium benzoate, the N–methyl–d–aspartate receptor antagonist ketamine, and dextromethorphan can favorably modify the early neonatal course of severe nonketotic hyperglycinemia, but does not prevent poor long–term outcomes.

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