[Glucose-galactose malabsorption. The first reported case in Denmark].
The first diagnosed case of glucose-galactose malabsorption (GGM) in Denmark is presented. GGM is an autosomal recessive disorder characterized by neonatal début of severe osmotic diarrhoea. Untreated, GGM is potentially fatal. The disease is chronic and caused by a defect in the Na+/glucose co-transporter, SGLT1, located on the jejunal brush border. Diagnosis is based upon oral glucose tolerance test, stool reducing substances, and may be substantiated by genetic analysis. Treatment consists in eliminating alimentary glucose and galactose. Nurtured on this diet the patient will develop normally.
Børneafdelingen, Centralsygehuset i Holbaek.
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D003937:Diagnosis, Differential; D003968:Diarrhea, Infantile / Q000175:diagnosis; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics
D005947:Glucose; D005690:Galactose
Glukose-galaktose-malabsorption. Det første beskrevne tilfaelde i Danmark.