title: Glycogen storage disease: report of 17 cases from southern India.
abstract: BACKGROUND
  There are only four reports of glycogen storage disease (GSD), totalling six cases, from India.
  
  
  OBJECTIVE
  To determine the clinical phenotypes of children diagnosed with GSD in southern India.
  
  
  METHODS
  Liver biopsy reports from 1994 to 2005 were reviewed and GSD was confirmed in 17 patients. All 17 patients were tested for the three commonest GSD 1a mutations by restriction fragment length polymorphism: R83C, Q347X and G727T.
  
  
  RESULTS
  They presented at mean age of 15 months (range, birth to 46 months) with hypoglycemia, hepatomegaly and delayed milestones. None of the patients showed R83C, Q347X or G727T mutation.
  
  
  CONCLUSIONS
  Glycogen storage disease may not be rare in India. The commonest 1a mutations are probably rare here.
authors.affiliation: Department of Gastroenterology and Molecular Biology Unit, Institute of Population Health and Clinical Research, St. John's Medical College Hospital, Bangalore 560 034, India. koshyabe@yahoo.com
authors.forename: Abraham
authors.initials: A
authors.lastname: Koshy
authors.forename: Kannan
authors.initials: K
authors.lastname: Ramaswamy
authors.forename: Marjorie
authors.initials: M
authors.lastname: Correa
authors.forename: Swarna
authors.initials: S
authors.lastname: Rekha
mesh_terms: D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006008:Glycogen Storage Disease / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology*; D008297:Male; D009154:Mutation; D010641:Phenotype