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A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption

W S Lee1, C G Tay, N Nazrul

  • 1Department of Paediatrics, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia. leews@um.edu.my

The Medical Journal of Malaysia
|October 27, 2009
PubMed

Insights

A rare genetic disorder, glucose-galactose malabsorption, caused severe infant diarrhea and malnutrition. Prompt diagnosis through clinical observation and simple tests led to effective management, highlighting the importance of basic diagnostic approaches.

Area of Science:

  • Pediatrics
  • Clinical Genetics
  • Gastroenterology

Background:

  • Glucose-galactose malabsorption is a rare inherited disorder affecting nutrient absorption.
  • Early-onset severe diarrhea and malnutrition in infants can indicate underlying metabolic or absorptive defects.

Observation:

  • A five-month-old infant presented with persistent diarrhea from birth, severe malnutrition, and metabolic acidosis.
  • Diarrhea continued despite specialized formulas and oral rehydration solutions, resolving only with fasting.

Findings:

  • Fructose and glucose tolerance tests confirmed the inability to absorb and metabolize glucose, but not fructose.
  • This pattern is characteristic of glucose-galactose malabsorption.

Implications:

  • Highlights the diagnostic value of careful clinical observation and basic laboratory tests in pediatric cases.
  • Demonstrates the successful management of glucose-galactose malabsorption through appropriate dietary interventions and nutritional support.

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