MAPLE SYRUP URINE DISEASE

Course overview

MAPLE SYRUP URINE DISEASE IS A RARE, INBORN ERROR OF METABOLISM, RESULTING IN DECREASED BRANCHED-CHAIN KETOACID DEHYDROGENASE ENZYME ACTIVITY. IT CAN RESULT IN FATAL IRREVERSIBLE NEUROCOGNITIVE DEFICITS. PROMPT DIAGNOSIS AND TREATMENT ARE NECESSARY TO PREVENT OR REDUCE THE SEVERITY OF THESE COMPLICATIONS. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF MAPLE SYRUP URINE DISEASE AND HIGHLIGHTS THE INTERPROFESSIONAL TEAM'S ROLE IN MANAGING PATIENTS WITH THIS CONDITION.