glukosegalaktosemalabsorption

Glukosegalaktosemalabsorption, often abbreviated as GGM, is a rare inherited metabolic disorder that affects the digestive system's ability to absorb glucose and galactose. These are simple sugars that are normally absorbed in the small intestine. In individuals with GGM, the specific transporter responsible for bringing these sugars into the intestinal cells, known as the sodium-glucose cotransporter 1 (SGLT1), functions improperly or is absent. This leads to the sugars remaining in the intestinal lumen, drawing water with them.

The primary symptom of GGM is severe, watery diarrhea that begins shortly after birth, typically within days of starting milk feeding. Infants may also experience vomiting, dehydration, poor weight gain, and abdominal distention. The condition is a form of disaccharidase deficiency, as lactose, a disaccharide composed of glucose and galactose, cannot be effectively digested or absorbed.

Diagnosis is usually made through clinical observation and confirmed with specific tests. These can include genetic testing to identify mutations in the SGLT1 gene, as well as intestinal biopsy to assess transporter function. Treatment for GGM involves a strict lactose-free and glucose-free diet. This means avoiding milk and dairy products, as well as any foods containing glucose or galactose as ingredients. Specialized formulas are available to provide necessary nutrition without these sugars. With appropriate dietary management, individuals with GGM can lead healthy lives.