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A case report details an infant presenting with persistent diarrhea, metabolic acidosis, acute kidney injury, and nephrocalcinosis, emphasizing early recognition and timely fructose-based dietary intervention to improve outcomes and reduce mortality.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/a-rare-case-of-congenital-glucose-galactose-malabsorption-due-to-slc5a1-mutation/454845/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/a-rare-case-of-congenital-glucose-galactose-malabsorption-due-to-slc5a1-mutation/454845.png","ImageObject",300,407,{"name":42,"@type":43},"Cart","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-30","2026-09-30",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",7,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What causes congenital glucose-galactose malabsorption in this case?","Question",{"text":63,"@type":64},"It is caused by mutations in the SLC5A1 gene, which encodes the sodium-dependent glucose transporter 1 (SGLT1), leading to impaired glucose and galactose absorption.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How did the infant present clinically?",{"text":68,"@type":64},"The infant developed persistent non-bloody, non-mucoid diarrhea starting at two days of life, later with vomiting, severe dehydration, hypovolemic shock, metabolic acidosis, acute kidney injury, and medullary nephrocalcinosis.",{"name":70,"@type":61,"acceptedAnswer":71},"Why is early dietary intervention important for GGM?",{"text":72,"@type":64},"Early recognition enables prompt dietary changes, including ensuring appropriate formulas, which can resolve diarrhea, support weight gain, and improve prognosis while reducing the risk of failure to thrive and 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\nMuralidharan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CCBY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.98692  \nOpen Access Case Report  \nA Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A 1 Mutation  \nHema Muralidharan 1, Amreen Sajith 1, Nadia ElSayed 1, Juwairiya Syed Iqbaluddin 1 , Poorvi Gupta 2, Dafalla Ahmed Babiker Rahamtalla 2  \n1. Pediatrics, Al Qassimi Hospital for Women and Children, Sharjah, ARE 2. Pediatric Gastroenterology, Al Qassimi Hospital for Women and Children, Sharjah, ARE  \nCorresponding author: Juwairiya Syed Iqbaluddin, [juw.iqbal@gmail.com](juw.iqbal@gmail.com)  \nAbstract  \nProtracted neonatal diarrhea is severe and potentially life-threatening if not promptly diagnosed and treated. Causes include congenital defects in sodium, chloride, glucose/galactose, bile acid transport, enterokinase deficiency, and villous atrophy. Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by mutations in the SGLT1 gene, impairing glucose and galactose absorption and leading to osmotic diarrhea. This case report highlights the rarity of GGM and emphasizes the importance of early recognition to enable prompt dietary intervention, preventing failure to thrive and reducing mortality. It further underscores the imperative need for fructose-based formulas to be readily available.  \nWe describe a five-week-old full-term male infant, born to third-cousin parents, who presented in hypovolemic shock due to persistent diarrhea that started at two days of life, accompanied by severe metabolic acidosis and acute kidney injury. Abdominal ultrasound revealed medullary nephrocalcinosis. Endoscopic evaluation showed nonspecific duodenitis. The patient initially failed to reach full feeds on multiple formula trials, including amino acid-based, extensively hydrolyzed, and rice-based formulas, necessitating parenteral nutrition, which was later discontinued due to fungemia. Extensive investigationsand genetic testing (whole exome sequencing) confirmed congenital GGM (SLC5A 1 mutation) . Due to the unavailability of glucose and galactose-free formula, he was initially started on a ketogenic formula and subsequently transitioned to a fructose-based formula once available. Following dietary modification, the patient showed significant clinical improvement, with resolution of diarrhea, steady weight gain, and appropriate growth on follow-up. In conclusion, GGM should be considered in infants with persistent diarrhea and failure to thrive. Timely diagnosis optimizes prognosis, improves outcomes, and facilitates genetic counseling for affected families.  \nCategories: Nutrition, Pediatrics, Gastroenterology  \nKeywords: acute kidney injury, fructose-based formula, glucose-galactose malabsorption, nephrocalcinosis (nc), osmotic diarrhea  \nIntroduction  \nNeonates are highly susceptible to diarrhea-related complications due to the immaturity of fluid homeostasis and immune regulation. Protracted diarrhea is characterized by persistent, severe symptoms that often necessitate parenteral nutritional support. Its etiology is diverse and can be classified based on villus-crypt architecture integrity, either preserved or disrupted with villus atrophy [1] . Well-documented causes include congenital defects in sodium, chloride, glucose/galactose, and bile acid transport, as well as congenital enterokinase deficiency, all of which contribute to early-onset severe diarrhea [2] .  \nCongenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by mutations in the SLC5A 1 gene, which encodes the sodium-dependent glucose transporter 1 (SGLT1) . This results in defective absorption of glucose and galac","cbCaityc7Q981xyx","https://ap.wps.com/l/cbCaityc7Q981xyx","pdf",138175,"English","# Abstract\n# Introduction\n# Case Presentation","[{\"question\":\"What causes congenital glucose-galactose malabsorption in this case?\",\"answer\":\"It is caused by mutations in the SLC5A1 gene, which encodes the sodium-dependent glucose transporter 1 (SGLT1), leading to impaired glucose and galactose absorption.\"},{\"question\":\"How did the infant present clinically?\",\"answer\":\"The infant developed persistent non-bloody, non-mucoid diarrhea starting at two days of life, later with vomiting, severe dehydration, hypovolemic shock, metabolic acidosis, acute kidney injury, and medullary nephrocalcinosis.\"},{\"question\":\"Why is early dietary intervention important for GGM?\",\"answer\":\"Early recognition enables prompt dietary changes, including ensuring appropriate formulas, which can resolve diarrhea, support weight gain, and improve prognosis while reducing the risk of failure to thrive and mortality.\"}]","A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation | PDF",1790741484,15]