Malabsorption of glucose-galactose: causes, symptoms, diagnosis, treatment

Malabsorption of glucose-galactose is a disease inherited by an autosomal recessive type associated with the pathology of the glucose transport protein and galactose. There are mutations in the chromosome of the 22 gene that encodes the protein. With this disease in the intestine, the absorption of monosaccharides is impaired, which provokes osmotic diarrhea, which quickly leads to dehydration. Perhaps a violation of the reabsorption of glucose in the tubules of the kidneys. Absorption of fructose is not impaired.

ICD-10 code

E74.3. Other disorders of carbohydrate absorption in the intestine.

Symptoms

From the first day of enteral nutrition, a frequent watery stool with a sour smell, abdominal pain and flatulence are associated with increased release of gases by bacteria fermenting the sugars. Glucosuria is possible. In contrast to lactase deficiency, the disease is severe, the symptoms of dehydration and hypotrophy are rapidly progressing.

Diagnostics

Diagnose the disease with a combination of increased excretion of carbohydrates with feces, hypoglycemia, glucosuria, hypernatremia. Differentiate with conditions accompanied by secondary impairments of absorption, for example, inflammatory diseases with disaccharidic insufficiency (the appointment of a lactose-free diet does not improve the condition of patients).

Treatment

The lack of mixtures for artificial feeding on the basis of fructose makes it difficult to feed the newborn enterally. Patients need parenteral or elemental enteral nutrition.

[1], [2], [3], [4], [5], [6]