Open AccessCongenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation
Author(s) -
Allawama Manar,
Albaramki Jumana,
Altamimi Mutaz,
ElShanti Hatem
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1913
Subject(s) - hypernatremia , malabsorption , medicine , galactose , girl , shock (circulatory) , pediatrics , gastroenterology , endocrinology , intensive care medicine , biochemistry , genetics , biology , chemistry , organic chemistry , sodium
Key Clinical Message 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 .