KRABBE DISEASE

Course overview

KRABBE DISEASE, AN AUTOSOMAL RECESSIVE DISEASE, IS A TYPE OF LYSOSOMAL STORAGE DISORDER THAT RESULTS FROM THE DEFICIENCY OF THE ENZYME GALACTOCEREBROSIDASE. AS A RESULT, THERE IS AN ACCUMULATION OF THE TOXIC COMPOUND PSYCHOSINE PRINCIPALLY IN THE CENTRAL AND PERIPHERAL NERVOUS SYSTEMS, WHICH LEADS TO WIDESPREAD NEUROLOGICAL SYMPTOMS. SINCE THE OUTCOME OF THIS DISEASE IS PROFOUND AND FATAL, A METICULOUS DIAGNOSTIC WORK-UP, FOLLOWED BY EARLY TREATMENT IS CRUCIAL. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF KRABBE DISEASE AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF PATIENTS WITH THIS CONDITION.