Article
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Annals of neurology - 1 Nov 2002
Kure Shigeo, Kojima Kanako, Ichinohe Akiko, Maeda Tomoki, Kalmanchey Rozalia, Fekete György, Berg Suzan Z, Filiano Jim, Aoki Yoko, Suzuki Yoichi, Izumi Tatsuro, Matsubara Yoichi
Abstract excerpt
Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode...
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