[Congential malabsorption of glucose and galactose in 2 brothers].
Congeneeital glucose-galactose malabsorption is a rare clinical entity transmitted by autossomic recessive gen. The defect is in the small intestinal active transport system which is shared by glucose and galactose. Diarrhea and failure to thrive from the first week of life are the prominent symptoms. We report two sibs from consaguineous parents with diarrhea and failure to thrive since they were born. Both children had glucose and galactose malabsorption but tolerated well formula containing fructose as the only source of carbohydrate. They showed flat blood glucose curves when tested with glucose and galactose loads but normal increments of the sugar blood levels with fructose load. The small intestinal biopsy performed in both patients revealed normal villous pattern. When put under a diet containing fructose as the only source of carbohydrate, both patients had their symptoms subsided and reassumed the normal pattern of growth.
D001835:Body Weight; D002675:Child, Preschool; D003968:Diarrhea, Infantile / Q000209:etiology*; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D005951:Glucose Tolerance Test; D006801:Humans; D007408:Intestinal Absorption; D008286:Malabsorption Syndromes / Q000151:congenital* / Q000235:genetics
D005947:Glucose; D005690:Galactose
Mabsorção congênita de glicose e galactose em dois irmãos.