galactosemia

Full Definition

An autosomal recessive genetic disorder characterized by deficiency in one of the enzymes required for galactose metabolism, most commonly galactose-1-phosphate uridyltransferase (GALT). This results in accumulation of galactose and its metabolites, leading to hepatomegaly, cataracts, intellectual disability, and ovarian dysfunction if untreated. Classic galactosemia requires immediate dietary restriction of galactose-containing foods, primarily milk and dairy products. The condition is detected through newborn screening programs that measure enzyme activity or metabolite levels.

In Context

• "Infants with galactosemia must avoid all milk-based formulas and dairy products to prevent serious complications." — Dietary management protocol
• "The newborn screening program identified three cases of galactosemia in the past year, all requiring immediate nutritional intervention." — Public health surveillance report