Article
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.
Nature communications - 4 Mar 2015
Pai Yun Jin, Leung Kit-Yi, Savery Dawn, Hutchin Tim, Prunty Helen, Heales Simon, Brosnan Margaret E, Brosnan John T, Copp Andrew J, Greene Nicholas D E
Abstract excerpt
Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). Mutations have also been identified in patients with neural tube defects (NTDs); however, the relationship between NKH and NTDs is unclear. We show that reduced expression of Gldc...
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