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Non-ketotic hyperglycinemia
Ioan Oprea, Camelia Malancioiu, Adrian Martinescu and Ioana Grigore
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