Article
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
Archivos argentinos de pediatria - 1 Aug 2017
Liu Shu, Wang Zhiqing, Liang Jinqun, Chen Nuan, OuYang Haimei, Zeng Weihong, Chen Liying, Xie Xunjie, Jiang Jianhui
Abstract excerpt
Nonketotic hyperglycinemia is an extremely rare autosomal recessively inherited glycine encephalopathy caused by a deficiency in the mitochondrial glycine cleavage system, which leads to severe clinical symptoms. Nonketotic hyperglycinemia is characterized by complex and diverse phenotypes, such as hypotonia, seizures, cognitive impairment, developmental delays and myoclonic jerks that may lead to apnea and even...
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