1.
Indian J Pediatr
;
2007 Dec; 74(12): 1124-6
Article
Dans Anglais
| IMSEAR
| ID: sea-79675
Résumé
Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. His glycine index was 0.38 and he did not respond to treatment with sodium benzoate and dextromethorphan. Hypotonia, transient hyperammonemia and metabolic acidosis were associated findings.