GAUCHER DISEASE

Course overview

GAUCHER DISEASE IS AN AUTOSOMAL RECESSIVE INBORN ERROR OF METABOLISM DUE TO THE TOXIC ACCUMULATION OF GLUCOCEREBROSIDE LIPIDS IN VARIOUS ORGANS. IT RESULTS FROM MUTATIONS IN THE GBA1 GENE RESULTING IN A LYSOSOMAL DEFICIENCY OF GLUCOCEREBROSIDASE ACTIVITY. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF THE GAUCHER DISEASE AND HIGHLIGHTS THE ROLE OF INTERPROFESSIONAL TEAM MEMBERS IN COLLABORATING TO PROVIDE WELL-COORDINATED CARE AND ENHANCE PATIENT OUTCOMES.