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Revista Romana de PEDIATRIE | Volumul LX, Nr. 2, An 2011
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Non-ketotic hyperglycinemia

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ABSTRACT

Non-ketotic hyperglycinemia (NKHG) is an inborn error of glycine metabolism in which large quantities of glycine accumulate in all body tissues, including the brain. This accumulation in central nervous system produces hyperexcitability of neurons and seizures. We report a case of non-ketotic hyperglycinemia in a newborn.

Key words: hypotonia, unexplained coma, seizures, non-ketotic hyperglycinemia, newborn

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