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Glucose-galactose malabsorption: causes, symptoms, diagnosis, treatment

Alexey Kryvenko, medical expert
Last reviewed: 07.07.2025

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Glucose-galactose malabsorption is an autosomal recessive disorder associated with a defect in the glucose-galactose transport protein. Mutations are possible in chromosome 22 of the gene encoding the protein. In this disorder, monosaccharide absorption is impaired in the intestine, causing osmotic diarrhea that quickly leads to dehydration. Glucose reabsorption in the renal tubules may be impaired. Fructose absorption is not impaired.

ICD-10 code

E74.3. Other disorders of intestinal carbohydrate absorption.

Symptoms

From the first day of enteral nutrition, frequent watery stools with a sour smell, abdominal pain and flatulence occur, associated with increased gas production by bacteria fermenting sugars. Glucosuria is possible. Unlike lactase deficiency, the disease is severe, symptoms of dehydration and hypotrophy progress rapidly.

Diagnostics

The disease is diagnosed with a combination of increased excretion of carbohydrates with feces, hypoglycemia, glucosuria, hypernatremia. Differentiate with conditions accompanied by secondary absorption disorders, for example, inflammatory diseases with disaccharidase deficiency (prescribing a lactose-free diet does not improve the condition of patients).

Treatment

The lack of fructose-based formulas for artificial feeding makes it difficult to feed newborns enterally. Sick children require parenteral or elemental enteral nutrition.

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