Document Detail

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
MedLine Citation:
PMID:  23349517     Owner:  NLM     Status:  MEDLINE    
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.
Jennifer M Love; Debra Prosser; Donald R Love; Krishna Prakash Chintakindi; Ashwin B Dalal; Shagun Aggarwal
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-01-24
Journal Detail:
Title:  Journal of child neurology     Volume:  29     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2014-01-06     Completed Date:  2014-08-29     Revised Date:  2014-10-15    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  122-7     Citation Subset:  IM    
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MeSH Terms
DNA Mutational Analysis
Family Health*
Genetic Testing
Glycine Dehydrogenase (Decarboxylating) / genetics*
Hyperglycinemia, Nonketotic / genetics*
Infant, Newborn
Mutation / genetics*
Reg. No./Substance:
EC Dehydrogenase (Decarboxylating)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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