Nonketotic Hyperglycinemia of Infants in Taiwan

We report the clinical and genetic features of typical neonatal NKH with novel splicing mutation, c.1058+3A > C, in the intron 7 of the glycine decarboxylase (GLDC) gene. Furthermore, this study aimed to delineate the estimated incidence and clinical characteristics of NKH in the Taiwanese population.

Source: Pediatrics and Neonatology - March 2, 2016 Category: Perinatology & Neonatology Authors: Chiao-Fan Chiu, Ju-Li Lin, Jainn-Jim Lin, Min-Hua Tseng, Fu-Sung Lo, Ming-Chou Chiang Tags: Original article Source Type: research