Classic Galactosemia

📋Overview

Classic Galactosemia results from a deficiency of the enzyme galactose-1-phosphate uridylyltransferase, which is required to convert galactose into glucose. Without sufficient levels of this enzyme, the body cannot properly process sugars found in milk, which may lead to a clinical accumulation of metabolic byproducts in the blood and tissues.

This condition represents the most severe form of galactosemia and is typically identified during the neonatal period. Early detection is often achieved through routine newborn screenings to manage the clinical effects of the metabolic deficiency.