Document Detail


A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
MedLine Citation:
PMID:  23349517     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
Descriptor/Qualifier:
Consanguinity
DNA Mutational Analysis
Family Health*
Genetic Testing
Glycine Dehydrogenase (Decarboxylating) / genetics*
Humans
Hyperglycinemia, Nonketotic / genetics*
India
Infant, Newborn
Male
Mutation / genetics*
Chemical
Reg. No./Substance:
EC 1.4.4.2/Glycine Dehydrogenase (Decarboxylating)

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


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