What is galactosemia?

• A. An inborn error of metabolism that affects the body's ability to metabolize galactose
• B. A lactose intolerance
• C. A deficiency of pancreatic enzymes
• D. An allergy to dairy

Answer: (A)

Galactosemia is an inherited metabolic disorder in which the body's enzymes cannot properly convert galactose, a sugar found in lactose, into usable forms. This disruption in the galactose metabolic pathway causes accumulation of galactose and its metabolites, which can lead to serious problems such as liver dysfunction, jaundice, cataracts, and developmental issues if not treated early. Management focuses on strict avoidance of galactose/lactose, typically by using special formulas and avoiding dairy products. It’s an inborn error of metabolism, not lactose intolerance, a pancreatic enzyme deficiency, or a dairy allergy.