Definition:
Glucose-galactose malabsorption is a rare disease affecting the intestine lining, preventing it from absorbing galactose and glucose, which are simple sugars or monosaccharide. This in turn disturbs the digestive processes of those monosaccharides.
Diagnosis:
The symptoms of glucose-galactose malabsorption is usually noticed early on in an infant's life. Infants suffering from the disease exhibit a severe form of dehydration which may prove fatal, weight loss after being fed regular infant formulas or breast milk, and acidosis. Kidney stones may also be exhibited in patients as well as other calcium deposits throughout the body.
Treatment:
There is no known cure for glucose-galactose malabsorption. However, diarrhea can be controlled by removing sucrose, glucose, and lactose from their diets. If infants are diagnosed prenatally with the condition, they should be treated with a fructose-based formula and continue their development with fructose-based solid foods. Older children as well as adults can decrease their symptoms by living on a fructose-based diet. This has also shown to improve glucose tolerance as they get older.
Symptoms and Signs:
The symptoms for glucose-galactose malabsorption may sometimes only be noticeable by a doctor. These include dehydration, failure to thrive, diarrhea following milk consumption, abdominal bloating, abdominal cramps, gas, and nausea.
Causes:
Glucose-galactose malabsorption is autosomal recessive in nature. Mutations in the SLC5A1 gene, which is responsible for the production of glucose and sodium cotransporter called SGLT1, is responsible for causing the disease.
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glucosegalactosemalabsorption
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