Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose–galactose transporter SLC5A1

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose–galactose transporter SLC5A1

IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM i...

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Bibliographic Details
Main Authors: Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Pediatrics
Subjects:
glucose–galactose malabsorption
infantile diarrhea
SLC5A1
SGLT-1
sodium/glucose cotransporter
inborn errors of metabolism
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1284671/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1284671/full

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