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MBBS QUESTION #10306
Question 1
A breastfed neonate develops vomiting, jaundice, hepatomegaly, and reducing substances in the urine shortly after birth. This presentation, classic for severe (classic) galactosemia, most commonly results from deficiency of:
  • Galactokinase
  • Galactose-1-phosphate uridyltransferase (GALT)✔️
  • UDP-glucose 4-epimerase
  • Lactase
Correct Answer Explanation
GALT deficiency causes classic galactosemia, with toxic accumulation of galactose-1-phosphate causing liver, kidney, and brain damage if untreated; galactokinase deficiency instead causes a much milder form limited mainly to cataract formation, without the severe hepatic and systemic toxicity.