Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order

Congenital glucose-galactose malabsorption (CGGM) is a rare metabolic disorder caused by a deficient intestinal sodium-dependent glucose cotransporter (SGLT1) protein. Its failure leads to a lack of absorption of galactose, glucose, and sodium, which remains inside the intestinal lumen. The consequence of that involves, among other things, dehydration and diarrhea on neonatal onset. The basic treatment consists of diet management. A 6-month-old Brazilian infant with CGGM caused by a one base pair deletion on SLC5A1gene, in both alleles, causing a frameshift mutation and, consequently, a deleterious impact on the terminal protein portion is, for the first time, characterized here. Besides the common disease aspects, the child presented Necrotizing Enterocolitis (NEC), a new outcome for his condition. The fact that a non-consanguineous couple could produce a child with a recessive disease is puzzling. However, we were able to correlate all symptoms, including NEC, to the disruption of the protein terminal portion, based on literature review. This article brings a new point of view on disease report; putting together the social aspects, clinical examination, laboratory trials, genetic diagnostic, protein assemble and literature research in order to fulfill the patient history. This process allows us to improve the understanding of the disease mechanism, perform targeted genetic counseling and institute appropriate treatment using an adequate diet through nutritional guidance and surveillance.