A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia

作者：Love Jennifer M; Prosser Debra; Love Donald R; Chintakindi Krishna Prakash; Dalal Ashwin B; Aggarwal Shagun^*

来源：Journal of Child Neurology, 2014, 29(1): 122-127.

DOI：10.1177/0883073812471432

• nonketotic hyperglycinemia
• glycine metabolism
• GLDC gene
• glycine decarboxylase

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.

• 出版日期2014-1
• 单位河北医科大学