Article
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
Annals of neurology - 1 Feb 2006
Korman Stanley H, Wexler Isaiah D, Gutman Alisa, Rolland Marie-Odile, Kanno Junko, Kure Shigeo
Abstract excerpt
OBJECTIVE: To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established. METHODS: A newborn with NKH diagnosed prenatally following the neonatal death of a previous affected sibling was treated from birth with oral sodium benzoate (250 mg/kg/day) and the NMDA...
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