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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.


Sujets)
Aminoacidopathies congénitales/diagnostic , Évolution de la maladie , Issue fatale , Glycine/métabolisme , Humains , Hyperglycinémie non cétosique/diagnostic , Nouveau-né , Mâle , Maladies rares , Appréciation des risques , Crises épileptiques/diagnostic
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