HURLER SYNDROME

Course overview

HURLER SYNDROME, ALSO KNOWN AS MUCOPOLYSACCHARIDOSIS TYPE I (MPH I), IS ONE OF THE ELEVEN MUCOPOLYSACCHARIDOSES (MPS) DISORDERS. HURLER SYNDROME WAS FORMERLY KNOWN AS GARGOYLISM. IT IS AN INHERITED LYSOSOMAL DISORDER CAUSED BY THE ABSENCE OF ALPHA-L-IDURONIDASE, AN ENZYME RESPONSIBLE FOR THE DEGRADATION OF GLYCOSAMINOGLYCANS (GAGS OR MUCOPOLYSACCHARIDES). THIS LEADS TO A BUILDUP OF DERMATAN SULFATE AND HEPARIN SULFATE IN MULTIPLE TISSUES, RESULTING IN PROGRESSIVE DETERIORATION AND EVENTUALLY, DEATH. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF HURLER SYNDROME AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS.