A novel mutation in congenital glucose galactose malabsorption syndrome

Year 2018, Volume: 43 Issue: 4, 1062 - 1064, 29.12.2018

Mehmet Satar , Mustafa Akçalı , Hacer Yapıcıoğlu Yıldızdaş , Ferda Özlü Mehmet Ağın Gökhan Tümgör , Atıl Bişgin

https://doi.org/10.17826/cumj.383030

Abstract

*

Keywords

mutation, glucose galactose malabsorption syndrome

Konjenital glukoz galaktoz malabsorbsiyonu sendromunda yeni bir mutasyon

Abstract

*

Keywords

glucose, galactose, malabsorption, novel

References

• References 1. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature 1991; 350: 354-356.
• 2. Gök F, Aydın HI, Kurt I, Gökcay E, Maeda M, Kasahara M. A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. J Pediatr Gastroenterol Nutr 2005; 40: 508-511.
• 3. Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet. 2011; 79: 86-91.
• 4. Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A case of neonatal diarrhoea caused by congenital glucosegalactose malabsorption. Med J Malaysia 2009; 64: 83-85.
• 5. Abdullah AM, el-Mouzan MI, el Shiekh OK, al Mazyad A. Congenital glucose-galactose malabsorption in Arab children. J Pediatr Gastroenterol Nutr 1996; 23: 561- 564.
• 6. Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. Nutrition management of congenital glucose-galactose malabsorption: a case study. J Am Diet Assoc 1997; 97: 1417-1421.
• 7. Douwes AC, van Caillie M, Fernandes J, Bijleveld CM, Desjeux JF. Interval breath hydrogen test in glucose galactose malabsorption. Eur J Pediatr 1981; 137: 273-276.
• 8. Igarashi Y, Ohkohchi N, Kikuta A, Suzuki J, Tada K. Diagnosis of congenital glucose galactose malabsorption by measuring sugar- and amino acid-evoked potential differences in jejunum in vivo. J Pediatr Gastroenterol Nutr 1986; 5: 899-901.
• 9. Soylu OB, Ecevit C, Altinöz S, et al. Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. Eur J Pediatr 2008; 167: 1395-1398.
• 10. Fiscaletti M, Lebel MJ, Alos N, Benoit G, Jantchou P. Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3. Horm Res Paediatr. 2017; 87: 277-282.
• 11. Assiri A, Saeed A, Alnimri A, Ahmad S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health 2013; 33: 108-110.
• 12. Saadah Ol, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucosegalactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. Arab J Gastroenterol 2014; 15: 21-23.