Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child
Chang, C.-Y.; Lin, S.-P.; Lin, H.-Y.; Chuang, C.-K.; Ho, C.-S.; Hsu, C.-H.
Acta Paediatrica Taiwanica 49(1): 35-37
2008
ISSN/ISBN: 1608-8115 PMID: 18581728 Document Number: 619701
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 371 (p. His371Asp mutation) in the gene product. The other allele of the GLDC gene was deleted, a mutation inherited from the father.