Glucose-galactose malabsorption
Glucose-galactose malabsorption | |
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Other names | SGLT1 deficiency |
Glucose-galactose malabsorption is inherited in an autosomal recessive manner. | |
Specialty | Endocrinology |
Treatment | avoidance of glucose and galactose |
Glucose-galactose malabsorption is a rare condition in which the cells lining the
, which prevents proper digestion of these molecules and larger molecules made from them.Glucose and galactose are called simple sugars, or monosaccharides. Sucrose and lactose are called disaccharides because they are made from two simple sugars, and are broken down into these simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and lactose is broken down into glucose and galactose. As a result, lactose, sucrose and other compounds made from carbohydrates cannot be digested by individuals with glucose-galactose malabsorption.
Genetics
The
Mutations that prevent the sodium/glucose cotransporter protein from performing this function result in a buildup of glucose and galactose in the intestinal tract. This failure of active transport prevents the glucose and galactose from being absorbed and providing nourishment to the body. In addition, the water that normally would have been transported across the brush border with the sugar instead remains in the intestinal tract to be expelled with the stool, resulting in dehydration of the body's tissues and severe diarrhea.[citation needed]
This condition is inherited in an
Diagnosis
Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (acidosis), and weight loss when fed breast milk or regular infant formulas. However, they are able to digest fructose-based formulas that do not contain glucose or galactose. Some affected children are better able to tolerate glucose and galactose as they get older.[citation needed]
Small amounts of glucose in the
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. This condition may be a milder variation of glucose-galactose malabsorption.[2]
Treatment
Treatment mainly consists of introducing formulas that are based on fructose and a regular diet deficient in glucose and galactose (and the disaccharides sucrose and lactose) products and ingredients.[3]
See also
References
- S2CID 25248625.
- ^ "Orphanet: Glucose galactose malabsorption".
- ^ Glucose galactose malabsorption. National Center for Biotechnology Information (US). 1998.
External links
- National Library of Medicine. Genetics Home Reference- Glucose-galactose malabsorption