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Congenital glucose-galactose malabsorption in Arab children
A M Abdullah1, M I el-Mouzan, O K el Shiekh
1Department of Paediatrics, Faculty of Medicine, King Saud University, Riyadh Saudi Arabia.
Insights
Glucose-galactose malabsorption in children causes chronic diarrhea and failure to thrive. A fructose-based formula effectively treated these symptoms, leading to healthy growth in affected infants.
Area of Science:
- Pediatric Gastroenterology
- Human Genetics
- Nutritional Science
Background:
- Glucose-galactose malabsorption is a rare inherited disorder affecting nutrient absorption.
- Early diagnosis and management are crucial for preventing complications like failure to thrive.
Purpose of the Study:
- To present a series of pediatric cases with glucose-galactose malabsorption.
- To highlight diagnostic methods and successful treatment strategies.
Main Methods:
- Case series involving eight children diagnosed with glucose-galactose malabsorption.
- Diagnostic procedures included small-bowel biopsy, histology, and enzyme assays.
- Clinical response to a fructose-based formula was monitored.
Main Results:
- Eight children presented with congenital chronic diarrhea and failure to thrive.
- Diagnosis was confirmed via small-bowel investigations.
- All patients showed significant clinical improvement and thrived on a fructose-based formula.
- Two children developed renal stones.
Conclusions:
- Glucose-galactose malabsorption requires prompt diagnosis through specific investigations.
- Dietary management with fructose-based formulas is an effective treatment.
- Long-term monitoring for complications such as renal stones is recommended.
Abstract:
Eight children with chronic diarrhea from glucose-galactose malabsorption from eight different families are presented. Six children are Saudi Arabs and two are of the other Arab nationalities. The mean age of the children at the time of presentation was 10.6 months. They were first seen for chronic watery diarrhea, present since birth, and failure to thrive. Laboratory investigations, including small-bowel biopsy, histology, and small-bowel enzyme assay, confirmed the diagnosis of glucose-galactose malabsorption. One child had a renal stone at the first visit, and another was discovered to have one on follow-up. All the children responded clinically to fructose-based formula, and they are thriving at follow-up.