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Love, J.M. and Prosser, D. and Love, D.R. and Krishnaprasad, C. and Dalal, Ashwin and Aggarwal, Shagun (2014) A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. Journal of Child Neurology, 29 (1). pp. 122-7. ISSN 1708-8283

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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.

Item Type: Article
Subjects: Genetics
Depositing User: Dr P Divakar
Date Deposited: 23 May 2015 19:49
Last Modified: 10 Dec 2015 07:01
URI: http://cdfd.sciencecentral.in/id/eprint/79

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