Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

  title={Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.},
  author={Stanley H. Korman and Isaiah D. Wexler and Alisa Gutman and M Rolland and Junko Kanno and Shigeo Kure},
  journal={Annals of neurology},
  volume={59 2},
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 receptor antagonist ketamine (15 mg/kg/day) immediately after sampling cord blood and… CONTINUE READING


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