Article
Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000
Chang Chia-Ying, Lin Shuan-Pei, Lin Hsiang-Yu, Chuang Chih-Kuang, Ho Che-Sheng, Hsu Chyong-Hsin
Abstract excerpt
We report a newborn boy with the classic neonatal form of non-ketotic hyperglycinemia (NKH). He had a typical presentation of frequent hiccups and myoclonic movements since birth. Genetic analysis demonstrated a mutant allele with a single substitution at nucleotide 1111 of exon 8 (c. 1111 C > G) in the GLDC gene inherited from his mother, resulting in a histidine-to-aspartic acid change at amino acid position...
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