Format

Send to

Choose Destination
See comment in PubMed Commons below
J Child Neurol. 2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24.

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Author information

  • 11Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand.

Abstract

Nonketotic hyperglycinemia is an inborn error of glycine metabolism. It manifests mostly as an acute encephalopathy in the neonatal period, although later, atypical presentations have also been reported. Mutations in 3 different genes have been implicated in nonketotic hyperglycinemia. Here we report a novel mutation, c.2296G>T (p.Gly766Cys), in exon 19 of the glycine decarboxylase (GLDC) gene (Refseq accession number NM_000170.2) in a consanguineous Indian couple with a history of 4 neonatal deaths.

KEYWORDS:

GLDC gene; glycine decarboxylase; glycine metabolism; nonketotic hyperglycinemia

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk