SNP Shot: Genomic Insights

Glucose-galactose malabsorption is a disorder where the body struggles to absorb the sugars glucose and galactose, leading mainly to severe diarrhea. This typically starts in infancy, and the intense diarrhea causes weight loss and dehydration, potentially becoming life-threatening. Some affected individuals may have small amounts of glucose in their urine (mild glucosuria). In rare instances, infants with this condition may develop kidney stones due to calcium deposits in the kidneys (nephrocalcinosis).

The symptoms of glucose-galactose malabsorption become apparent early in life when infants are fed breast milk or standard infant formulas. These contain glucose, galactose, and lactose, which is broken down into glucose and galactose. When individuals with this condition consume these foods, it triggers diarrhea and other health issues. Eliminating foods containing glucose, galactose, and lactose from the diet resolves the diarrhea.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the responsible gene in each cell for the condition to develop. Individuals with only one copy of the mutated gene (carriers), typically the parents of an affected child, usually do not exhibit symptoms.