Glucose-galactose malabsorption is an inherited metabolic disorder characterized by the small intestine's inability to transport and absorb glucose and galactose (simple sugars or monosaccharides). Glucose and galactose have very similar chemical structures, and normally the same transport enzyme provides them with entry into specialized cells in the small intestine where they are absorbed and transferred to other cells. As a result of a mutation on chromosome 22, the transport enzyme does not function properly and the result is glucose-galactose malabsorption. Symptoms may begin as early as the first day of life or a few days after birth when the newborn is exposed to lactose from milk. They include severe, chronic diarrhea, dehydration, and failure to thrive. Early recognition and treatment are important. In severe cases, the disorder may become life-threatening.
1. Among infants, discontinuation of oral feeding may stop diarrhea but it will start again when oral feeding is reinstated if the child is fed formula containing glucose. Diarrhea can be quite severe and may readily lead to nutritional wasting and severe dehydration.
2. In some cases, the affected child grows up with chronic but intermittent diarrhea made worse by sugar-rich meals. 3. Modest amounts of sugar in the urine (glucosuria) of an affected child may be a warning that kidney stones are developing.
In adults, symptoms of glucose-galactose malabsorption may include bloating, nausea, diarrhea, abdominal cramps, rumbling sounds caused by gas in the intestine (borborygmi) and excessive urination.
HOW IS CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION DIAGNOSED?
The diagnosis is usually made by a paediatrician upon review of the presenting signs especially the pervasive, watery diarrhea. A simple test, known as the ""glucose breath hydrogen test"" is often used to confirm the physical diagnosis.
HOW IS CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION TREATED?
Treatment of glucose-galactose malabsorption requires the elimination of all milk and milk products from the diet since milk products contain lactose and lactose are broken down to glucose and galactose. Fructose, a sugar absorbed differently from either glucose or galactose, may be substituted as a source of carbohydrate calories. Most clinicians who treat this disorder recommend the elimination of all lactose, sucrose, and glucose from the diet. These sugars may be replaced by fructose-based nutrients.
DID YOU KNOW?
Related disorders of Congenital Glucose-galactose Malabsorption are Irritable bowel syndromes, lactose intolerance, galactosemia and Crohn’s disease