Journal of Rafsanjan University of Medical Sciences

  Congental Glucose- Galactose Malabsorption a Rare Cause of Diarrhea in Infancy Period: Report of Two Cases

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  R. Vakili¹* MD , SH. Rasouli² MD

  1- Associate Professor of Pediatrics, Mashhad University of Medical Sciences. Mashhad Iran

  2- Assistant Professor of Pediatrics, Mashhad University of Medical Sciences. Mashhad Iran

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  Glucose galactose malabsorption is a rare genetic disorder caused by a defect in glucose and galactose transport across the intestinal brush border. It is characterized by the neonatal onset of sev+ere, watery, acidic diarrhea.

  In the past, it usually resulted in death within the first weeks of life. Nowadays the disease has been identified, and children recover if glucose and galactose are withdrawn from their diet. We report two interesting cases of disease in this article. Both of them presented with severe water diarrhea, severe FTT, and the sign and symptom of dehydration. According to our knowledge this is the first case report of this rare autosomal recessive disease in Iran.

  Key words: Glucose - Galactose malabsorption, Diarrhea, failure to thrive

  * Corresponding author tel: (0511) 8543031-9