Article
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.
Journal of pediatric gastroenterology and nutrition - 1 Feb 2018
Al-Suyufi Yasir, ALSaleem Khalid, Al-Mehaidib Ali, Banemai Mohammed, Aldekhail Wajeeh M, Al-Muhandes Abdulhakim, Mohammed Manal, Allam Rabab, Jambi Amani, Ramzan Khushnooda, Imtiaz Faiqa
Abstract excerpt
Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose cotransporter 1, which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop...
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