Download PDF
J Pediatr Genet 2022; 11(04): 317-319
DOI: 10.1055/s-0040-1719161
Case Report

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Hasan Akduman 
1   Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, University of Health Sciences of Turkey, Ankara, Turkey
,
Dilek Dilli
1   Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, University of Health Sciences of Turkey, Ankara, Turkey
,
Serdar Ceylaner
2   Intergen Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Congenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Keywords

neonatal period - diarrhea - glucose-galactose malabsorption - SLC5A1

Patient Consent

Written permission was obtained from both parents.


Authors' Contributions

H.A. drafted and wrote the manuscript. D.D. edited the manuscript. S.C. did the genetic analysis of the case. All the authors of this paper have read and approved the final version submitted.




Publication History

Received: 26 August 2020

Accepted: 30 September 2020

Article published online:
19 November 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Online Mendelian Inheritance in Man. OMIM MIM Number 182380. Baltimore, MD: Johns Hopkins University Press; 2015 . Available at: http://omim.org/182380
    PubMedGoogle Scholar
  • 2 Online Mendelian Inheritance in Man. OMIM MIM Number 606824. Baltimore, MD: Johns Hopkins University Press; 2016 . Available at: http://omim.org/606824
    PubMedGoogle Scholar
  • 3 Al-Suyufi Y, ALSaleem K, Al-Mehaidib A. et al. SLC5A1 mutations in Saudi Arabian patients with congenital glucose-galactose malabsorption. J Pediatr Gastroenterol Nutr 2018; 66 (02) 250-252
    CrossrefPubMedGoogle Scholar
  • 4 Hediger MA, Coady MJ, Ikeda TS, Wright EM. Expression cloning and cDNA sequencing of the Na+/glucose co-transporter. Nature 1987; 330 (6146): 379-381
    CrossrefPubMedGoogle Scholar
  • 5 Pajor AM, Wright EM. Cloning and functional expression of a mammalian Na+/nucleoside cotransporter. A member of the SGLT family. J Biol Chem 1992; 267 (06) 3557-3560
    CrossrefPubMedGoogle Scholar
  • 6 Vallaeys L, Van Biervliet S, De Bruyn G. et al. Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. Eur J Pediatr 2013; 172 (03) 409-411
    CrossrefPubMedGoogle Scholar
  • 7 Wright EM, Martín MG, Turk E. Intestinal absorption in health and disease sugars. Best Pract Res Clin Gastroenterol 2003; 17 (06) 943-956
    CrossrefPubMedGoogle Scholar
  • 8 Saadah OI, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. Arab J Gastroenterol 2014; 15 (01) 21-23
    CrossrefPubMedGoogle Scholar
  • 9 Anderson S, Koniaris S, Xin B, Brooks SS. Congenital glucose-galactose malabsorption: a case report. J Pediatr Health Care 2017; 31 (04) 506-510
    CrossrefPubMedGoogle Scholar