A novel mutation in congenital glucose galactose malabsorption syndrome

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

doi:10.17826/cumj.383030

Letter to Editor

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

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, 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

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.

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 Volume: 43 Issue: 4

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.