PDF herunterladen
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
› Institutsangaben
› Weitere Informationen
Auch verfügbar auf
    Lizenzen und 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.




Publikationsverlauf

Eingereicht: 26. August 2020

Angenommen: 30. September 2020

Artikel online veröffentlicht:
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
    PubMedSuche in Google Scholar
  • 2 Online Mendelian Inheritance in Man. OMIM MIM Number 606824. Baltimore, MD: Johns Hopkins University Press; 2016 . Available at: http://omim.org/606824
    PubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google 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
    CrossrefPubMedSuche in Google Scholar