Article
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
The Journal of pediatrics - 1 Jun 2004
Kure Shigeo, Ichinohe Akiko, Kojima Kanako, Sato Kenichi, Kizaki Zenro, Inoue Fumio, Yamanaka Chutaro, Matsubara Yoichi
Abstract excerpt
In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic...
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