Abraham Koshy1, Kannan Ramaswamy, Marjorie Correa, Swarna Rekha. 1. 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
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. CONCLUSION: Glycogen storage disease may not be rare in India. The commonest 1a mutations are probably rare here.
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. CONCLUSION: Glycogen storage disease may not be rare in India. The commonest 1a mutations are probably rare here.