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Published on: April 4, 2018
Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child
Chia-Ying Chang1, Shuan-Pei Lin, Hsiang-Yu Lin
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
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.
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