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A novel mutation in congenital glucose galactose malabsorption syndrome

Year 2018, , 1062 - 1064, 29.12.2018
https://doi.org/10.17826/cumj.383030

Abstract

*

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.

Konjenital glukoz galaktoz malabsorbsiyonu sendromunda yeni bir mutasyon

Year 2018, , 1062 - 1064, 29.12.2018
https://doi.org/10.17826/cumj.383030

Abstract

*

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.
There are 12 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Letter to the Editor
Authors

Mehmet Satar 0000-0002-5718-0503

Mustafa Akçalı 0000-0002-0496-542X

Hacer Yapıcıoğlu Yıldızdaş 0000-0001-6295-553X

Ferda Özlü This is me 0000-0002-2092-8426

Mehmet Ağın This is me

Gökhan Tümgör 0000-0002-3919-002X

Atıl Bişgin 0000-0002-2053-9076

Publication Date December 29, 2018
Acceptance Date February 14, 2018
Published in Issue Year 2018

Cite

MLA Satar, Mehmet et al. “A Novel Mutation in Congenital Glucose Galactose Malabsorption Syndrome”. Cukurova Medical Journal, vol. 43, no. 4, 2018, pp. 1062-4, doi:10.17826/cumj.383030.