Glucose-Galactose Malabsorption, also known as GGM, is a rare genetic disorder that affects the absorption of glucose and galactose in the small intestine. This condition is characterized by the inability of the body to transport these sugars from the intestine into the bloodstream, leading to digestive problems and malnutrition.
Individuals with Glucose-Galactose Malabsorption have a deficiency or dysfunction of the SGLT1 protein, which is responsible for the absorption of glucose and galactose in the small intestine. Without functional SGLT1, these sugars remain in the intestinal lumen and are not absorbed into the bloodstream, resulting in their increased concentration in the gut.
The symptoms of Glucose-Galactose Malabsorption typically appear in infancy when a baby is first introduced to breast milk or formula containing glucose and galactose. Affected infants may experience severe diarrhea, dehydration, weight loss, and failure to thrive. These symptoms can be life-threatening if not properly managed.
Diagnosis of Glucose-Galactose Malabsorption is usually confirmed through genetic testing, which identifies mutations in the SGLT1 gene. Additionally, a hydrogen breath test can be performed to measure the levels of hydrogen gas produced by bacteria in the gut when they ferment unabsorbed sugars.
Unfortunately, there is currently no cure for Glucose-Galactose Malabsorption. Treatment mainly focuses on managing symptoms and preventing complications. This involves avoiding foods and beverages that contain glucose and galactose, such as milk, certain fruits, and some processed foods. Instead, individuals with GGM may need to follow a strict diet that excludes these sugars and relies on alternative sources of energy.
In conclusion, Glucose-Galactose Malabsorption is a rare genetic disorder that affects the absorption of glucose and galactose in the small intestine. It is characterized by the deficiency or dysfunction of the SGLT1 protein, leading to digestive problems and malnutrition. Early diagnosis and proper management of this condition are crucial for the affected individuals to lead a healthy life.