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Article

Congenital glucose-galactose malabsorption due to SLC5A1 mutation: A case of hypernatraemic dehydration.

JPMA. The Journal of the Pakistan Medical Association - 1 Apr 2026

Arsoy Hanife Aysegul, Terzi Hatice Zeynep, Oto Arzu, Tutanc Murat

Abstract excerpt

Congenital glucose-galactose malabsorption (GGM) is an exceedingly uncommon autosomal recessive metabolic state defined by persistent diarrhoea along with serious dehydration. It is a disease that is difficult to consider in differential diagnosis and may be fatal if left untreated. This report details the clinical and diagnostic progress of a two month-old Turkish infant exhibiting episodes of severe recurrent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42160565
DOI: 10.47391/JPMA.22994

Genes

SLC5A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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