GALACTOSEMIA

Course overview

Galactosemia is an autosomal recessive genetic condition in which the body is unable to metabolize the simple sugar galactose due to one of several enzyme deficiencies. Three forms of galactosemia are each caused by a different enzyme deficiency: galactose-1-phosphate uridyl transferase deficiency (GALT); deficiency of galactokinase (GALK1); and deficiency of galactose-6-phosphate epimerase (GALE). This continuing education module is designed to give the reader/learner an increased understanding of galactosemia, its clinical presentation, and treatment goals for patients with this diagnosis. Readers may explore any or all of the topics. One contact hour of continuing education credit is available for those who successfully complete the post-test and evaluation form.