Article
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
Journal of human genetics - 1 Nov 2014
Azize Nor Azimah Abdul, Ngah Wan Zurinah Wan, Othman Zulhabri, Md Desa Norsiah, Chin Chen Bee, Md Yunus Zabedah, Mohan Anand, Hean Teh Siao, Syed Zakaria Syed Zulkifli, Lock-Hock Ngu
Abstract excerpt
Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulation in body...
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