Abstract
While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.
Highlights
While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately
We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment
Glucose-galactose malabsorption (GGM) (OMIM: 606824) is an extremely rare autosomal-recessive metabolic disorder that is characterized by a defect in transporting glucose and galactose across the intestine border [1]
Summary
Glucose-galactose malabsorption (GGM) (OMIM: 606824) is an extremely rare autosomal-recessive metabolic disorder that is characterized by a defect in transporting glucose and galactose across the intestine border [1]. We present the clinical and diagnostic course of a Saudi infant with GGM found to have a heterozygous mutation in SLC5A1 gene. We present here the case of a seven-month-old boy who is a product of spontaneous vaginal delivery at term; pregnancy, labor, and delivery were uncomplicated He was born to non-consanguineous parents and has two older healthy siblings with no significant relevant family history. The infant presented to the emergency room multiple times for severe diarrhea episodes that started since the age of four months. He passed watery stools around 10-15 times a day without improvement that was unrelated to acute sickness. Test Name Mean Corpuscular Hgb Concentration Platelet Count Mean Platelet Volume Eosinophils # Nucleated RBC % Red Cell Count Red Cell Distribution Width Lymphocytes # Basophils # Hemoglobin Hematocrit Mean Corpuscular Volume Mean Corpuscular Hgb White Cell Count Neutrophils # Monocytes #
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