Galactokinase deficiency (GALK)
Galactokinase deficiency (GALK) is one type of galactosemia. Different types of galactosemia have different causes and health effects. Galactokinase deficiency is an inborn error of metabolism, an inherited condition in which the body is not able to break down a sugar (called galactose) properly and it builds up in the body. Galactose is found in milk and all foods that contain milk, some other types of foods, and even some medications. Galactose is also made by a person’s own body. If GALK deficiency is not treated with a special diet to remove as much galactose from the diet as possible, complications such as cataracts (an eye condition that can lead to problems with vision) can develop. Support groups are available to help connect families living with GALK deficiency with others who have experience or expertise with forms of galactosemia.
To learn more about Galactokinase deficiency, visit Baby's First Test: Galactokinase deficiency. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.