A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia. (January 2014)

• Record Type: Journal Article
• Authors: Love, Jennifer M.; Prosser, Debra; Love, Donald R.; Chintakindi, Krishna Prakash; Dalal, Ashwin B.; Aggarwal, Shagun
• Is Part Of: Journal of child neurology. Volume 29:Number 1(2014:Jan.)
• Page Start: 122
• Page End: 127
• Publication Date: 2014-01
• Subjects: nonketotic hyperglycinemia -- glycine metabolism -- GLDC gene -- glycine decarboxylase; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073812471432
• Languages: English
• ISSNs: 0883-0738

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.