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Case report
Ref Number: APCP-PP-193

Suspected case of Congenital Galactose Glucose Malabsorption associated with Nephrocalcinosis

Lelwala Godakandage Chaminda Prasad Godakanda¹, Dilumini Dissanayake¹, Thamodha Weerasinghe¹, Rohan Wickramasinghe², Viraj Thilakarathna³, Shenali Wijetunge¹, Ayesha Narangoda², Sarojini Viknarajah¹
1- Lady Ridgeway Hospital for Children, Sri Lanka 2- National Hospital Galle, Sri Lanka 3- Colombo South Teaching Hospital, Sri Lanka
Corresponding Author: Lelwala Godakandage Chaminda Prasad Godakanda (prasadgodakanda89@gmail.com)
Abstract Body
Introduction: Congenital Glucose-Galactose Malabsorption (CGGM) is a rare autosomalrecessive defect present in infancy , caused by a gene mutation in the SLC5A1 gene, encoding the sodium-glucose cotransporter-1 (SGLT1). This impairment prevents intestinal absorption of glucose and galactose, leading to severe osmotic diarrhoea, lead to severe dehydration, metabolic acidosis, and death if left untreated. whereas fructose absorption via GLUT5 remainsintact in CGGM. Case Description: A 3-month-old, born to non-consanguineous parents, exclusively breastfed male presented with neonatalonset osmotic diarrhoea and profound failure to thrive (WAZ
Keywords: Glucose malabsorption; Nephrocalcinosis; Metabolic acidosis
Presentation Type: Case report
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
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