Vol. 28 - Num. 110
Clinical Reviews in Digestive Diseases
Severe neonatal diarrhea as the initial presentation of congenital glucose-galactose malabsorption
Carla Pamies Martíneza, M.ª Esperanza Escribano Palominoa, Cristina M.ª López Garcíab, Iván Carabaño Aguadoc, Fátima López Vegaa
aServicio de Neonatología. Hospital Universitario La Paz. Madrid. España.
bSección de Gastroenterología Pediátrica. Hospital Universitario La Paz. Madrid. España.
cSección de Gastroenterología, Hepatología y Nutrición Infantil. Servicio de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.
Correspondence: C Pamies. E-mail: carla_pamies_martinez@hotmail.com
Reference of this article: Pamies Martínez C, Escribano Palomino ME, López García MC, Carabaño Aguado I, López Vega F. Severe neonatal diarrhea as the initial presentation of congenital glucose-galactose malabsorption . Rev Pediatr Aten Primaria. 2026;28:[en prensa].
Published in Internet: 12-05-2026 - Visits: 165
Abstract
Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by mutations in the SLC5A1 gene, which encodes the SGLT1 cotransporter. This defect impairs intestinal absorption of glucose and galactose, leading to severe osmotic diarrhea from the neonatal period. Early diagnosis is essential to prevent metabolic complications and ensure adequate growth. We report the case of a term newborn who presented with this condition at 72 hours of life.
Keywords
● Congenital diarrhea ● Glucose-galactose malabsorption ● Hypernatremic dehydration ● Neonate ● SLC5A1