What Is Galactosemia?
Reviewed: Dr. Mera
Galactosemia is a congenital metabolic disorder in which galactose (a sugar byproduct of lactose) accumulates in blood. The condition arises because the body is incapable of processing and utilizing galactose to produce energy. Three types of galactosemia exist, associated to three different gene mutations. These genes are responsible for producing specific enzymes that are essential for breaking down galactose.
This causes galactose to build up in blood, which leads to galactosemia. The disorder is usually diagnosed in the early days of life, since galactose is found in breast milk, cow’s milk, some vegetables, and dairy products. Galactosemia can be life-threatening, causing many problems for newborns, if not treated immediately.
