LYSOSOMAL STORAGE DISEASE

Course overview

LYSOSOMAL STORAGE DISEASES (LSDS) ARE INBORN ERRORS OF METABOLISM CHARACTERIZED BY THE ACCUMULATION OF SUBSTRATES IN EXCESS IN VARIOUS ORGANS' CELLS DUE TO THE DEFECTIVE FUNCTIONING OF LYSOSOMES. THEY CAUSE DYSFUNCTION OF THOSE ORGANS WHERE THEY ACCUMULATE AND CONTRIBUTE TO GREAT MORBIDITY AND MORTALITY. ALTHOUGH RARE INDIVIDUALLY, THEIR PREVALENCE IS SIGNIFICANT WHEN VIEWED COLLECTIVELY. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF LYSOSOMAL STORAGE DISEASES AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.