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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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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.

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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