title: D28G mutation in congenital glucose-galactose malabsorption.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics, Mashhad University of Medical Sciences, Ghaem Medical Center, Ahmadabad Avenue, Mashhad, Iran. hr-kianifar@mums.ac.ir
authors: Hamid-Reza
authors: HR
authors: Kianifar
authors: Saeed
authors: S
authors: Talebi
authors: Saeed
authors: S
authors: Talebi
authors: Jalil
authors: J
authors: Tavakkol-Afshari
authors: Mohammad
authors: M
authors: Esmaili
authors: Behrouz
authors: B
authors: Davachi
authors: Azam
authors: A
authors: Brook
mesh_terms: D001224:Aspartic Acid / Q000235:genetics*; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000151:congenital* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics*
chemical_list: D051269:Sodium-Glucose Transporter 1; D001224:Aspartic Acid; D005947:Glucose; D005998:Glycine; D005690:Galactose