LESCH NYHAN SYNDROME

Course overview

LESCH NYHAN SYNDROME IS AN INBORN DISORDER CAUSED BY A DEFICIENCY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT) ENZYME, AN ENZYME OF PURINE SALVAGE PATHWAY. THE ENZYME IS RESPONSIBLE FOR RECYCLING PURINES BY CONVERTING GUANINE AND HYPOXANTHINE INTO GUANOSINE MONOPHOSPHATE AND INOSINE MONOPHOSPHATE, RESPECTIVELY. LACK OF THE ENZYME CAUSES AN INCREASE IN GUANINE AND HYPOXANTHINE, WHICH EVENTUALLY GETS CONVERTED INTO URIC ACID. HPRT DEFICIENCY RESULTS IN A SPECTRUM OF CLINICAL PRESENTATIONS DEPENDING ON THE SEVERITY OF ENZYME DEFICIENCY. WITH AN ENZYME ACTIVITY OF LESS THAN 1.5%, LESCH NYHAN FALLS TOWARDS THE SEVERE END OF THE SPECTRUM. THE CHARACTERISTICS DEFINING THE DISEASE ARE HYPERURICEMIA, NEURODEVELOPMENTAL ABNORMALITIES WITH GLOBAL DEVELOPMENTAL DELAY, INVOLUNTARY MOVEMENTS, AND SELF-INJURIOUS BEHAVIOR. THIS ACTIVITY OUTLINES THE EVALUATION AND MANAGEMENT OF LESCH NYHAN SYNDROME AND EXPLAINS THE ROLE OF THE INTERPROFESSIONAL HEALTHCARE TEAM IN MANAGING PATIENTS WITH THIS CONDITION.