Glucose-galactose malabsorption

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Glucose-galactose malabsorption (pronunciation: glu·​cose-ga·​lac·​tose mal·​ab·​sorp·​tion) is a rare genetic metabolic disorder characterized by the body's inability to properly absorb glucose and galactose from the gut. The condition is also known as glucose-galactose intolerance.

Etymology

The term glucose-galactose malabsorption is derived from the names of the two sugars, glucose and galactose, that are not properly absorbed in this condition, and the term malabsorption, which refers to the inadequate absorption of nutrients in the gut.

Symptoms

The symptoms of glucose-galactose malabsorption typically appear shortly after birth and may include severe diarrhea, dehydration, and failure to thrive. Other symptoms may include malnutrition and growth retardation.

Causes

Glucose-galactose malabsorption is caused by mutations in the SLC5A1 gene. This gene provides instructions for making a protein that is involved in the active transport of glucose and galactose across the cell membrane in the intestines.

Diagnosis

Diagnosis of glucose-galactose malabsorption is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as a glucose tolerance test.

Treatment

Treatment of glucose-galactose malabsorption involves a strict dietary regimen that excludes foods containing glucose and galactose. This diet must be maintained for life. In some cases, medications may be used to manage symptoms.

Related Terms

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