Which are the symptoms of Glucose-Galactose Malabsorption?

Symptoms of Glucose-Galactose Malabsorption

Glucose-Galactose Malabsorption (GGM) is a rare genetic disorder that affects the ability of the small intestine to absorb glucose and galactose, two types of sugars found in many foods. This condition is caused by mutations in the SGLT1 gene, which is responsible for producing a protein called sodium-glucose cotransporter 1 (SGLT1). SGLT1 plays a crucial role in the absorption of glucose and galactose from the intestine into the bloodstream.

Individuals with GGM experience a range of symptoms, typically appearing shortly after birth or during infancy. The severity of symptoms can vary from person to person, but they generally include:

1. Diarrhea

Diarrhea is one of the most common symptoms of GGM. It is often chronic and watery, leading to frequent bowel movements. The inability to absorb glucose and galactose causes an osmotic effect in the intestine, drawing water into the bowel and resulting in loose stools.

2. Dehydration

Due to the persistent diarrhea, individuals with GGM are at a higher risk of dehydration. The excessive loss of fluids and electrolytes through diarrhea can lead to decreased urine output, dry mouth, thirst, and lethargy.

3. Failure to thrive

Failure to thrive is a term used to describe inadequate weight gain and growth in infants and children. Since glucose and galactose are essential for energy production and growth, the malabsorption of these sugars can result in poor weight gain, delayed development, and stunted growth.

4. Abdominal pain and bloating

Some individuals with GGM may experience abdominal pain and bloating. The accumulation of undigested sugars in the intestine can cause discomfort, cramping, and distension of the abdomen.

5. Vomiting

Vomiting is another common symptom of GGM. It can occur due to the irritation of the gastrointestinal tract caused by the accumulation of sugars that cannot be absorbed.

6. Irritability

Infants with GGM may exhibit irritability and fussiness. The discomfort caused by abdominal pain, bloating, and diarrhea can contribute to their overall irritability.

7. Weight loss

Unintentional weight loss may occur in individuals with GGM due to the inadequate absorption of glucose and galactose, leading to a lack of energy and nutrients.

It is important to note that the symptoms of GGM can overlap with other gastrointestinal disorders, making diagnosis challenging. If GGM is suspected, genetic testing and specialized tests to measure sugar absorption in the intestine may be conducted to confirm the diagnosis.

Treatment for GGM involves the complete elimination of glucose and galactose from the diet. Infants are typically fed with specialized formulas that do not contain these sugars. As individuals with GGM grow older, they need to follow a strict diet avoiding foods that contain glucose and galactose, such as milk, certain fruits, and some grains. With proper management and adherence to a restricted diet, individuals with GGM can lead healthy lives.