title: Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.
abstract: 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.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chia-Ying
authors.initials: CY
authors.lastname: Chang
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.forename: Che-Sheng
authors.initials: CS
authors.lastname: Ho
authors.forename: Chyong-Hsin
authors.initials: CH
authors.lastname: Hsu
mesh_terms: D050841:Glycine Dehydrogenase (Decarboxylating) / Q000235:genetics*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D050841:Glycine Dehydrogenase (Decarboxylating)