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

ABSTRACT:

Introduction

Congenital 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 in Mexico.

Methods

The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea.

Results

The infant was born at term by C-section with a birth weight of 3.120 kg and height of 48 cm for consanguineous parents. She had been breastfed until day 5 of her life when she presented lethargy, diarrhea, abdominal discomfort, and jaundice. During the first evaluation at the emergency room, the significant laboratory fin

SUBMITTER: Lopez-Mejia L 

PROVIDER: S-EPMC10909829 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature