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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Nutrition management of congenital glucose-galactose malabsorption: a case study.

In this article we describe the clinical history, diagnostic evaluation, and management of an infant who had congenital glucose-galactose malabsorption (CGGM)--a rare disorder thought to be inherited as an autosomal recessive trait. Because of defective sodium-coupled cotransport of glucose and galactose in the intestinal mucosa, infants with CGGM suffer from chronic, profuse, watery diarrhea that often leads to hypertonic dehydration. This infant experienced persistent diarrhea and hypernatremic dehydration during the first 3 months of life. Despite management with elemental formulas and continuous nasogastric feedings during initial hospitalizations, worsening diarrhea and dehydration persisted and malnutrition occurred. Diagnostic evaluations ruled out cystic fibrosis and bacterial or viral gastroenteritis. Diagnostic tests also revealed normal pancreatic exocrine function and normal villus architecture. The persistence of glucose-positive, watery diarrhea, even when the infant was fed an oral electrolyte solution, led to the diagnosis of CGGM. The infant was treated successfully with a carbohydrate-free infant formula to which fructose was added incrementally to meet energy requirements. Parental education about dietary management of CGGM with specialized formula supplemented with fructose and solid food feedings was an important component of this infant's nutrition therapy. Aggressive nutrition intervention for the infants and judicious dietary counseling for parents can lead to normal growth and neurological development for an infant with CGGM.[1]


  1. Nutrition management of congenital glucose-galactose malabsorption: a case study. Abad-Sinden, A., Borowitz, S., Meyers, R., Sutphen, J. Journal of the American Dietetic Association. (1997) [Pubmed]
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