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

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 t...

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Detalles Bibliográficos
Autores principales: Al‐lawama, Manar, Albaramki, Jumana, Altamimi, Mutaz, El‐Shanti, Hatem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333054/
https://www.ncbi.nlm.nih.gov/pubmed/30656007
http://dx.doi.org/10.1002/ccr3.1913
Descripción
Sumario: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.

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