GALACTOKINASE DEFICIENCY

Course overview

GALACTOKINASE DEFICIENCY OR GALACTOSEMIA TYPE II IS A RARE INBORN ERROR OF GALACTOSE METABOLISM. GALACTOSEMIA TYPE II IS RARER AND MORE INSIDIOUS THAN OTHER GALACTOSEMIA TYPES AND RESULTS IN THE FORMATION OF NUCLEAR CATARACTS WITHOUT PROVOKING INTOLERANCE SYMPTOMS. EARLY RECOGNIZATION AND DIETARY RESTRICTIONS ARE IMPORTANT TO PREVENT LONG TERM COMPLICATIONS. THIS ARTICLE REVIEWS THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF GALACTOKINASE DEFICIENCY AND HIGHLIGHTS THE ROLE OF AN INTER-PROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.