Which problems can occur when galactosemia is not treated with milk substitutes?

When galactosemia is not treated by eliminating milk and milk products from the diet, the accumulation of galactose-1-phosphate in body tissues leads to severe clinical complications.12

If milk feeding continues, infants may experience the following health problems:

• Gastrointestinal and Systemic Issues: Persistent vomiting, lethargy, failure to gain weight, and malnutrition.12
• Organ Dysfunction: Progressive liver dysfunction, jaundice, and kidney disease.12
• Infection Risk: Increased susceptibility to severe bacterial infections, particularly by Escherichia coli.2
• Neurological and Developmental Impact: Intellectual disability may occur, potentially resulting from high galactose levels, low blood glucose, or both.12
• Ocular Damage: The development of cataracts in the eyes.12

Untreated infants who survive are often stunted in growth. While early dietary intervention can prevent many of these outcomes, some children may still face learning difficulties or varying degrees of intellectual disability.12