GALACTOSE SCREENING (O.S.)

Overview

Galactosemia is an autosomal recessive disorder resulting from the deficiency of any of the three enzymes required for galactose metabolism. Galactosemia due to deficiency of Galactose-1-phosphate uridyl transferase (GALT) is the commonest cause and is typically diagnosed through newborn screening. Early diagnosis and dietary management are crucial to prevent severe complications such as liver damage, cataracts, and developmental delays.