Congenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Complex carbohydrates consumed cannot be absorbed into the small intestine in their original form. First, they must be hydrolyzed to a monosaccharide form such as glucose or galactose. These monosaccharides are then transported across the intestinal membrane and into the blood via transcellular transport. The intestinal epithelial cells allow the movement of these monosaccharides with a defined 'entry' through membrane transporter proteins present on their apical membrane and...

Carbohydrates are essential macronutrients that serve as the body's primary energy source. Their digestion begins in the mouth, where salivary amylase partially breaks down complex carbohydrates such as starch into smaller oligosaccharides. This mechanical and enzymatic activity prepares carbohydrates for further processing in the gastrointestinal tract.
After being swallowed, the partially digested carbohydrates mix with gastric secretions in the stomach. However, the acidic environment...

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...

Diarrhea is characterized by the occurrence of frequent, watery bowel movements. Various factors can trigger diarrhea, including viral or bacterial infections, foodborne illnesses, side effects from certain medications, and underlying digestive disorders. If not adequately managed, diarrhea can lead to complications such as dehydration, electrolyte imbalances, and nutrient deficiencies. Severe diarrhea can lead to significant weight loss, malnutrition, and weakened immune function.
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