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Galactosemia

Galactosemia is an inherited metabolic disorder in which the body cannot properly break down galactose, a sugar found in milk. It is caused most commonly by deficiency of the enzyme GALT (galactose-1-phosphate uridyltransferase).

  • Classic Galactosemia (GALT deficiency) – most severe

  • Galactokinase deficiency (GALK) – mainly causes cataracts

  • UDP-galactose-4-epimerase deficiency (GALE) – variable severity

When galactose cannot be metabolized, galactose-1-phosphate and galactitol accumulate, causing toxicity to the liver, kidneys, brain, and lens of the eye.

  • Jaundice
  • Vomiting, poor feeding
  • Hepatomegaly, liver failure
  • Lethargy, irritability
  • Sepsis (especially E. coli)
  • Cataracts

Symptoms usually appear within days of starting breast milk or formula.

  • Newborn screening (elevated galactose / low GALT activity)
  • Confirmatory: GALT enzyme assay, genetic testing
  • Elevated galactose-1-phosphate in blood

  • Immediate lifelong galactose restriction: stop breast milk and regular formula; use lactose-free formulas
  • Calcium and vitamin D supplementation
  • Monitor for complications: speech delay, cognitive issues, ovarian failure in females

With early treatment, acute symptoms resolve, but long-term neurodevelopmental and speech issues may persist.

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