Neonatal nonketotic hyperglycinemia.
No Thumbnail Available
Date
2007-12-05
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
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.
Description
Keywords
Citation
Bhamkar RP, Colaco P. Neonatal nonketotic hyperglycinemia. Indian Journal of Pediatrics. 2007 Dec; 74(12): 1124-6