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

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.

SUBMITTER: Al-Lawama M

PROVIDER: S-EPMC6333054 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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

Al-Lawama Manar M Albaramki Jumana J Altamimi Mutaz M El-Shanti Hatem H

Clinical case reports 20181111 1

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. ...[more]

PMID: 30656007

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