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Updated: Oct 14, 2025

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Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant

Loujen O Alamoudi1, Albaraa T Alfaraidi1, Samiyah S Althagafi2

  • 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Ministry of the National Guard - Health Affairs, Jeddah, SAU.

Cureus
|November 5, 2021
PubMed

Insights

Congenital glucose-galactose malabsorption (GGM) is a rare disorder causing severe diarrhea. Early diagnosis and fructose-based formula are crucial for managing this life-threatening condition in infants.

Area of Science:

  • Metabolic disorders
  • Pediatric gastroenterology
  • Genetic diseases

Background:

  • Congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder.
  • Characterized by intractable diarrhea and severe dehydration, GGM can be life-threatening if not treated.
  • The rarity of GGM makes it a diagnostic challenge for clinicians.

Observation:

  • A seven-month-old Saudi infant presented with recurrent severe watery diarrhea and failure to thrive.
  • Standard treatments were ineffective for the infant's symptoms.
  • The infant exhibited symptoms despite appropriate initial medical care.

Findings:

  • Molecular testing revealed a compound heterozygous variant in the SLC5A1 gene.
  • This genetic finding confirmed the diagnosis of congenital glucose-galactose malabsorption.
  • The patient's condition was linked to a specific genetic mutation.

Implications:

  • Highlights the importance of considering rare diseases like GGM in differential diagnoses.
  • Emphasizes the need for early diagnosis and timely management to prevent severe complications.
  • Fructose-based formulae are an effective treatment for GGM, improving infant outcomes.

Keywords:
autosomal recessiveggmglucose-galactose malabsorptioninfantile diarrheaslc5a1

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