Galactosemia

Classic Galactosemia; Galactokinase Deficiency Disease; Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease; GALT Deficiency; UDP-Galactose-4-Epimerase Deficiency Disease; UDPglucose 4-Epimerase Deficiency Disease; UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatome ...