What is galactosemia?

• A. Vitamin deficiency
• B. Inborn error of metabolism that affects galactose metabolism
• C. Bacterial infection
• D. Kidney disease

Answer: (B)

Galactosemia is an inherited metabolic disorder in which the body cannot properly metabolize galactose because one of the enzymes in the galactose (Leloir) pathway is deficient. This genetic defect means galactose and its metabolites build up in blood and tissues, which can cause serious problems like liver enlargement, jaundice, poor feeding, vomiting, cataracts, and, in newborns, risk of infection or sepsis if not treated. It’s typically autosomal recessive and detected by newborn screening; management involves strict avoidance of galactose and lactose (no dairy).

This description fits because galactosemia is specifically an inborn error of metabolism affecting how galactose is processed, not a vitamin deficiency, not a bacterial infection, and not a kidney disease.