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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]
Lactose is a disaccharide sugar composed of galactose and glucose that is found in milk. Lactose can not be absorbed by the intestine and needs to be split in the small intestine into galactose and glucose by the enzyme called lactase; unabsorbed lactose can cause abdominal pain, bloating, diarrhea, gas, and nausea.
Glucose-galactose malabsorption, a genetic disorder caused by changes in a protein critical for the transport of glucose and galactose across the intestine which leads to impaired glucose/galactose absorption, dehydration, and severe diarrhea in young children.
Enteral feeding with a protein hydrolysate or amino acid based formulas worsen the diarrhoea and the children rapidly fail to thrive and develop protein energy malnutrition. In the majority of cases the severity of the malabsorption and diarrhoea make them dependent on daily long term total parenteral nutrition.
They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. [1] The most common sub-type is PMM2-CDG (formerly known as CDG-Ia ) where the genetic defect leads to the loss of phosphomannomutase 2 ( PMM2 ), the enzyme responsible for the ...
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
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This was the first place in which glucose-galactose malabsorption was reported. Pediatric gastroenterology centers in London contributed greatly to this field and hepatology by helping and recognizing multiple doctors with their investigations. An example is Tom Macdonald, who concentrated his immunological research on gastroenterological ...