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D28G mutation in congenital glucose-galactose malabsorption
Hamid-Reza Kianifar1, Saeed Talebi, Saeed Talebi
1Department of Pediatrics, Mashhad University of Medical Sciences, Ghaem Medical Center, Ahmadabad Avenue, Mashhad, Iran. hr-kianifar@mums.ac.ir
Background:
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, and early death.
Methods:
In this study, we analyzed D28G mutation in 16 family members of a patient with typical presentation of congenital glucose-galactose malabsorption with polymerase chain reaction-Restriction Fragment Length Polymorphism method.
Results:
Nine members of this family were heterozygous for D28G mutation.
Conclusion:
To the best of our knowledge this is the first report of D28G mutation in Iran. Moreover, this simple typical PCR-Restriction Fragment Length Polymorphism method, allows immediate identification of D28G mutation.
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