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 .
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http://dx.doi.org/10.1002/ccr3.1913 | DOI Listing |
Congenital diarrhea and enteropathies (CoDEs) condition is a rare cause of chronic diarrhea in infants that can be challenging to diagnose. This article discusses key signs to recognize in considering a CoDEs diagnosis and provides an overview of the diagnostic process. We report a late preterm twin infant with intractable watery diarrhea starting shortly after birth.
View Article and Find Full Text PDFFront Pediatr
February 2024
Servicio de Medicina Interna, Hospital del Niño Dr. Rodolfo Nieto Padrón, Villahermosa, Mexico.
Introduction: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico.
Methods: The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea.
JPGN Rep
November 2023
From the Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, FL.
Congenital glucose-galactose malabsorption is a rare cause of life-threatening diet-induced diarrhea in infants. Mutations in the gene, which encodes for the sodium-dependent glucose transporter, result in large-volume diarrhea due to aberrant glucose and galactose transport across the intestinal brush border. The diagnosis can be made clinically based on the presence of diarrhea soon after birth, evidence of carbohydrate malabsorption in the stool, and resolution of diarrhea with dietary elimination of glucose and galactose.
View Article and Find Full Text PDFJ Pak Med Assoc
November 2023
University of Child Health Sciences, Lahore, Pakistan.
Genes (Basel)
June 2023
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara Bilkent Hospital, University of Health Sciences, 06800 Ankara, Turkey.
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital glucose-galactose malabsorption from four unrelated, consanguineous Turkish families. Early recognition and timely management by eliminating glucose and galactose from the diet are fundamental for affected individuals to survive and develop normally.
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