Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation

Abstract

A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in SLC5A1.