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