Format

Send to

Choose Destination
See comment in PubMed Commons below
Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):35-7.

Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.

Author information

1
Department 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.

PMID:
18581728
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center