Galactosemia

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency; GALT; GALK; GALE; Epimerase deficiency galactosemia; GALE deficiency; Galactosemia type III; UDP-galactose-4; Duarte variant

Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.

Galactosemia

An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.

Causes

Symptoms

Exams and Tests

Treatment

Support Groups

Outlook (Prognosis)

Possible Complications

When to Contact a Medical Professional

Prevention