A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation

TL;DR

A rare case of a genetic disorder causing severe diarrhea in a newborn is reported, highlighting the importance of early diagnosis and dietary intervention.

Contribution

This case report emphasizes the rarity and management of congenital glucose-galactose malabsorption due to SLC5A1 mutations.

Findings

A five-week-old infant with SLC5A1 mutation showed significant improvement after switching to a fructose-based formula.

Persistent diarrhea and failure to thrive in infants should prompt consideration of glucose-galactose malabsorption.

Early diagnosis and dietary intervention can prevent severe complications like kidney injury and metabolic acidosis.

Abstract

Protracted neonatal diarrhea is severe and potentially life-threatening if not promptly diagnosed and treated. Causes include congenital defects in sodium, chloride, glucose/galactose, bile acid transport, enterokinase deficiency, and villous atrophy. Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by mutations in the SGLT1 gene, impairing glucose and galactose absorption and leading to osmotic diarrhea. This case report highlights the rarity of GGM and emphasizes the importance of early recognition to enable prompt dietary intervention, preventing failure to thrive and reducing mortality. It further underscores the imperative need for fructose-based formulas to be readily available.

We describe a five-week-old full-term male infant, born to third-cousin parents, who presented in hypovolemic shock due to persistent diarrhea that started at two days of life, accompanied by severe metabolic acidosis and acute kidney injury. Abdominal ultrasound revealed medullary nephrocalcinosis. Endoscopic evaluation showed nonspecific duodenitis. The patient initially failed to reach full feeds on multiple formula trials, including amino acid-based, extensively hydrolyzed, and rice-based formulas, necessitating parenteral nutrition, which was later discontinued due to fungemia. Extensive investigations and genetic testing (whole exome sequencing) confirmed congenital GGM (SLC5A1 mutation). Due to the unavailability of glucose and galactose-free formula, he was initially started on a ketogenic formula and subsequently transitioned to a fructose-based formula once available. Following dietary modification, the patient showed significant clinical improvement, with resolution of diarrhea, steady weight gain, and appropriate growth on follow-up. In conclusion, GGM should be considered in infants with persistent diarrhea and failure to thrive. Timely diagnosis optimizes prognosis, improves outcomes, and facilitates genetic counseling for affected families.