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Revista Cubana de Pediatría

Print version ISSN 0034-7531On-line version ISSN 1561-3119


AIT IDIR, Karim. Malabsorption of glucose and galactose and its relation with Down sydrome. Rev Cubana Pediatr [online]. 2020, vol.92, n.3, e677.  Epub Sep 01, 2020. ISSN 0034-7531.


Malabsorption of glucose and galactose is a genetic autosomic recesive disease caused by a mutation that affects the co-transportator of sodium-glucose.


To describe an unfrequent relation between the Down syndrome and the malabsortion of glucose and galactose.

Case presentation:

Undernourished child, 3 and half months old with Down syndrome from parents by blood. He early presented explosive diarrhea and vomiting with dehydration. He improved his state after elimination of oral feeding and a hydroelectrolitic perfusion, and his state worsened with the use of oral rehydration salts and dairy formula, even without cow´s milk proteins. The study of feces showed a fecal pH /5, presence of glucose, and the ionogram after 24 hours showed: sodium 0,5mEg (1-10), potasium 2,6 mEg (8-22) and the calculation made to identify the different causes of diarrhea was increased: 168 mOsm/kg (50-125). Having this clinical records, it was considered a diagnostic of glucose and galactose malabsorption, mainly after the improvement of the symptoms under a diet exclusively sugared with fructose.


It is important to take into account glucose and galactose malabsortion in the differential diagnosis of congenital watery diahrrea. The early diagnosis and an adequate diet with fructose avoid dehytration and malnutrition. The particularity of this case is the relation of glucose and galactose malabsorption with Down syndrome, that according to our knowledge is the first time it is described and it can increase the morbility.

Keywords : congenital diarrhea; glucose and galactose malabsortion; newborn; SLCSA1 gen; Down syndrome.

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