Monosaccharide malabsorption
=Monosaccharide Malabsorption =
Monosaccharide malabsorption is a rare condition characterized by the body's inability to properly absorb certain simple sugars, known as monosaccharides, from the diet. This can lead to a variety of gastrointestinal symptoms and nutritional deficiencies.
Overview[edit | edit source]
Monosaccharides are the simplest form of carbohydrates and include glucose, fructose, and galactose. In individuals with monosaccharide malabsorption, the transport mechanisms in the small intestine that facilitate the uptake of these sugars are impaired.
Causes[edit | edit source]
The condition can be caused by genetic mutations affecting the transport proteins responsible for monosaccharide absorption. For example, mutations in the SGLT1 gene can lead to glucose-galactose malabsorption, a specific type of monosaccharide malabsorption.
Symptoms[edit | edit source]
Common symptoms of monosaccharide malabsorption include:
- Diarrhea
- Abdominal pain
- Bloating
- Flatulence
- Malnutrition
Diagnosis[edit | edit source]
Diagnosis typically involves:
- Clinical evaluation of symptoms
- Hydrogen breath test to detect malabsorption
- Genetic testing to identify mutations
Treatment[edit | edit source]
Management of monosaccharide malabsorption involves dietary modifications to avoid the offending sugars. This may include:
- A low-FODMAP diet
- Avoidance of foods high in fructose or glucose
Related Conditions[edit | edit source]
Research[edit | edit source]
Ongoing research is focused on understanding the genetic basis of monosaccharide malabsorption and developing targeted therapies.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Monosaccharide malabsorption is a rare disease.
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Contributors: Prab R. Tumpati, MD