Question:
A neonate presents with jaundice, hepatomegaly, vomiting, and signs of sepsis. Classic galactosemia is diagnosed. Which of the following organisms is most commonly associated with sepsis in this condition?
A neonate presents with jaundice, hepatomegaly, vomiting, and signs of sepsis. Classic galactosemia is diagnosed. Which of the following organisms is most commonly associated with sepsis in this condition?
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High-Yield Association:
- Classic Galactosemia + Neonatal Sepsis = Escherichia coli ($E.\ coli$).
- Pathognomonic Eye Finding: "Oil-drop" nuclear cataracts due to galactitol accumulation in lens fibers via aldose reductase.
- Classic Galactosemia + Neonatal Sepsis = Escherichia coli ($E.\ coli$).
- Pathognomonic Eye Finding: "Oil-drop" nuclear cataracts due to galactitol accumulation in lens fibers via aldose reductase.
Updated On: Sep 3, 2026
- Klebsiella pneumoniae
- Staphylococcus aureus
- Escherichia coli
- Listeria monocytogenes
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The Correct Option is C
Solution and Explanation
Concept:
Classic Galactosemia is an autosomal recessive inborn error of carbohydrate metabolism caused by severe deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactitol in tissues.
Explanation:
• Symptoms typically manifest within the first two weeks of life following the introduction of galactose-containing feeds (breast milk or cow's milk formula) and include poor feeding, vomiting, prolonged unconjugated and conjugated hyperbilirubinemia, hepatosplenomegaly, hepatic dysfunction, and oil-drop cataracts.
• Neonates with classic galactosemia possess an extraordinary susceptibility to fulminant neonatal sepsis, specifically caused by Escherichia coli (in up to 90% of septic cases).
• High levels of circulating galactose and galactose-1-phosphate impair neutrophil chemotaxis, phagocytosis, and bactericidal oxidative burst capacity.
• Additionally, the elevated concentration of galactose in tissues enhances the virulence and proliferation of E. coli strains by altering bacterial capsular antigen expression and host mucosal defenses.
• In any newborn with unexplained E. coli bacteremia or sepsis associated with hyperbilirubinemia and hepatomegaly, classic galactosemia must be urgently suspected and lactose/galactose-free formula (soy-based) initiated immediately.
Final Answer:
Escherichia coli is the classic and most frequently encountered pathogen responsible for fulminant sepsis in neonates with untreated classic galactosemia.
Classic Galactosemia is an autosomal recessive inborn error of carbohydrate metabolism caused by severe deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactitol in tissues.
Explanation:
• Symptoms typically manifest within the first two weeks of life following the introduction of galactose-containing feeds (breast milk or cow's milk formula) and include poor feeding, vomiting, prolonged unconjugated and conjugated hyperbilirubinemia, hepatosplenomegaly, hepatic dysfunction, and oil-drop cataracts.
• Neonates with classic galactosemia possess an extraordinary susceptibility to fulminant neonatal sepsis, specifically caused by Escherichia coli (in up to 90% of septic cases).
• High levels of circulating galactose and galactose-1-phosphate impair neutrophil chemotaxis, phagocytosis, and bactericidal oxidative burst capacity.
• Additionally, the elevated concentration of galactose in tissues enhances the virulence and proliferation of E. coli strains by altering bacterial capsular antigen expression and host mucosal defenses.
• In any newborn with unexplained E. coli bacteremia or sepsis associated with hyperbilirubinemia and hepatomegaly, classic galactosemia must be urgently suspected and lactose/galactose-free formula (soy-based) initiated immediately.
Final Answer:
Escherichia coli is the classic and most frequently encountered pathogen responsible for fulminant sepsis in neonates with untreated classic galactosemia.
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