Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation

Manar Al-lawama; Jumana Albaramki; Mutaz Altamimi; Hatem El-Shanti

doi:10.1002/ccr3.1913

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Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation

Journal article

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Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation

Manar Al-lawama, Jumana Albaramki, Mutaz Altamimi and Hatem El-Shanti

Clinical case reports, Vol.7(1), pp.51-53

01/2019

DOI: 10.1002/ccr3.1913

PMCID: PMC6333054

PMID: 30656007

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Abstract

A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in SLC5A1.

Details

Title: Subtitle: Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation
Creators: Manar Al-lawama - University of Jordan
Jumana Albaramki - University of Jordan
Mutaz Altamimi - University of Jordan
Hatem El-Shanti - University of Jordan
Resource Type: Journal article
Publication Details: Clinical case reports, Vol.7(1), pp.51-53
DOI: 10.1002/ccr3.1913
PMID: 30656007
PMCID: PMC6333054
NLM abbreviation: Clin Case Rep
ISSN: 2050-0904
eISSN: 2050-0904
Language: English
Date published: 01/2019
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984353932002771

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