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DOI: 10.1055/s-0040-1719161
A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene
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.
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
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