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Key Features

  • Rare disorder in which the sodium-glucose transport protein is defective

  • Transport of glucose in the intestinal epithelium and renal tubule is impaired

  • Acquired, transient form occurs mainly in infants younger than 6 months, usually following acute viral or bacterial enteritis

Clinical Findings

  • Diarrhea begins with the first feedings, accompanied by reducing sugar in the stool and acidosis

Diagnosis

  • Small bowel histology is normal

  • Glycosuria and aminoaciduria may occur

  • Glucose tolerance test is abnormal

  • Fructose is well tolerated

Treatment

  • In congenital disease,

    • Exclusion of glucose and galactose from the diet is mandatory

    • A carbohydrate-free base formula is used with added fructose

  • Prognosis is good if diagnosed early.

  • Tolerance for glucose and galactose improves with age

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