Document Detail

A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family.
MedLine Citation:
PMID:  21188552     Owner:  NLM     Status:  Publisher    
Galactosemia is an autosomal recessive disorder of galactose metabolism. In the very first instance of its kind from India, the authors report the presence of three different galatose-1-phosphate uridyl transferase (GALT) gene mutations, associated with galactosemia, in a single Indian family. One of the three mutations, S307X, is a novel mutation (GenBank Accession number GQ355273) and is of nonsense nature causing the truncation of the GALT protein resulting in the decreased enzyme activity. The authors have also emphasized the importance of introduction of new born screening program for galactosemia and its genetic analysis in select settings across the country.
Ramandeep Singh; Gurjit Kaur; Babu R Thapa; Rajendra Prasad
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-28
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  -     ISSN:  0973-7693     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Biochemistry, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
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