Nutrition Management of Congenital Glucose-Galactose Malabsorption: A Case Study1

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Abstract

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. J Am Diet Assoc. 1997;97:1417-1421.

Section snippets

Case Presentation

The female infant weighed 3.4 kg (75th percentile) at birth; gestation was uncomplicated and of normal length. She adapted well to breast-feeding and was discharged on her second day of life. Two days later she was admitted to a local hospital with presumed gastroenteritis. At the time of her hospital admission, her serum sodium level was 149 mmol/L and her serum bicarbonate (HC03) level was 15.9 mmol/L. Breast-feeding was discontinued, Nutramigen (Mead Johnson, Evansville, Ind) was prescribed,

Discussion of Pathophysiology and Clinical Features

Glucose-galactose malabsorption in patients with CGGM results from a selective defect of the glucose/sodium cotransport system in the brush border membrane of the intestine (4), (8), (9), (10), (11). Affected patients hydrolyze lactose, sucrose, and maltose normally; glucose and galactose absorption rates are very low, but fructose absorption is normal or nearly normal (8), (9), (10), (11).

The diarrhea in patients with CGGM results from an inability to absorb glucose and galactose from the

Discussion of Nutrition Management

This infant with CGGM demonstrated many of the classic clinical features of this disorder. As a newborn she experienced diarrhea that led to hypernatremic, hyperosmolar dehydration and metabolic acidosis. She continued to experience profuse watery diarrhea throughout her first 4 months of life, despite changes to elemental formulas. As is common in patients with CGGM, anorexia was not observed in this infant. Eventually, she was found to have acidic and fatty stools. Duodenal biopsies

Applications

CGGM presents a challenge to physicians, pediatric nutritionists, and other health care professionals who care for pediatric patients newly diagnosed with CGGM. The clinical nutritionist can play an important role on the health care team by working closely with the primary care physician and the pediatric gastroenterologist to provide recommendations for the formulation and advancement of the specialized formula used for patients with CGGM. The nutritionist can serve as a valuable resource for

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Note: Although results from a case study are rarely published in the Journal of The American Dietetic Association, the data in this article are of sufficient interest to present as a Perspectives in Practice article.

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