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Glucose-galactose malabsorption: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 07.07.2025
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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