Learn About Glucose-Galactose Malabsorption Deficiency

What is the definition of Glucose-Galactose Malabsorption Deficiency?

Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea. Beginning in infancy, severe diarrhea results in weight loss and dehydration that can be life-threatening. Small amounts of the simple sugar glucose in the urine (mild glucosuria) may occur in this disorder. Rarely, affected infants develop kidney stones due to deposits of calcium in the kidneys (nephrocalcinosis).

Save information for later
Sign Up
What are the causes of Glucose-Galactose Malabsorption Deficiency?

Mutations in the SLC5A1 gene cause glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a protein called sodium/glucose cotransporter protein 1 (SGLT1). This protein is found mainly in the intestinal tract and the kidneys. It spans the membrane of cells in these body systems and moves (transports) glucose and galactose from outside the cell to inside the cell. Sodium and water are transported across the cell membrane along with the sugars in this process. Glucose and galactose are simple sugars; they are present in many foods, or they can be obtained from the breakdown of lactose or other sugars and carbohydrates in the diet during digestion.

How prevalent is Glucose-Galactose Malabsorption Deficiency?

Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems.

Is Glucose-Galactose Malabsorption Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Glucose-Galactose Malabsorption Deficiency Local Doctors?
Distinguished
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Glucose-Galactose Malabsorption Deficiency Clinical Trials?
Validation and Field-applicability of a 13C-Sucrose Breath Test to Assess Carbohydrate Uptake and Utilization in Environmental Enteropathy Among Children in Resource Poor Settings: A Multi-site Prospective Study

Summary: Linear growth failure, a manifestation of chronic undernutrition in early childhood, is a recalcitrant problem in resource constrained settings. The underlying causes of growth failure are multifactorial, but persistent and recurrent infection and inflammation of the gastrointestinal tract and immune activation, a condition commonly referred to as environmental enteropathy, is an important contrib...

Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: April 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Glucose-Galactose Malabsorption Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.