Nutrition Management of Congenital Glucose-Galactose Malabsorption: A Case Study1
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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Cited by (22)
Congenital Diarrheal Diseases
2020, Clinics in PerinatologyCitation Excerpt :It presents with life-threatening diarrhea and severe dehydration. Mutation of SLC5A1 gene leads to an alteration of the sodium glucose cotransporter abnormality and insufficient absorption of glucose and galactose.26 It responds to a glucose- and galactose-free diet.
Glucose and galactose malabsorption: A new case in Spain
2020, Anales de PediatriaCongenital Glucose–Galactose Malabsorption: A Case Report
2017, Journal of Pediatric Health CareCitation Excerpt :Vegetables with large amounts of starch may not be well tolerated. As gradual introduction of foods is tolerated, the dietitian will instruct the parents how to read food labels to ensure that offending ingredients are avoided (Abad-Sinden, Borowitz, Meyers, & Sutphen, 1997). Ultimately, the diet is a high-fat and -protein diet and, the long-term effects of this diet on renal and cardiovascular function has not yet been determined (Wright et al., 2001).
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge
2016, Best Practice and Research: Clinical GastroenterologyCitation Excerpt :The diarrhoea promptly stops after exclusion of glucose und galactose from the diet. It should be considered that it can be induced with oral sugar-containing rehydration solutions [15]. The absorption of fructose is unaffected as it is transported via GLUT5.
Carbohydrate malabsorption
2014, Anales de Pediatria ContinuadaCongenital glucose-galactose malabsorption: A descriptive study of clinical characteristics and outcome from Western Saudi Arabia
2014, Arab Journal of GastroenterologyCitation Excerpt :The other method for diagnosis is the oral glucose/galactose tolerance test that may not be practical to perform in daily clinical practice [10]. Many authors however use clinical evolution with different types of feeding [11,12]. Recently the diagnosis can be confirmed by mutational analysis of the SLC5A1 [12–15].
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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.