BIOTINIDASE DEFICIENCY

Course overview

BIOTIN ACTS AS A COENZYME FOR FOUR CARBOXYLATION ENZYMES IN THE BODY: 3-METHYLCRONTONYL-COA CARBOXYLASE (MCC), PYRUVATE CARBOXYLASE (PC), ACETYL-COA CARBOXYLASE (ACC) AND PROPIONYL-COA CARBOXYLASE (PCC). BIOTINIDASE DEFICIENCY CAN BE PARTIAL(10 TO 30% OF ENZYME ACTIVITY) OR PROFOUND(LESS THAN 30% OF ENZYME ACTIVITY), WHICH HAS SIGNIFICANT IMPACTS ON THE TREATMENT APPROACH. PARTIAL CASES CAN HAVE LITTLE OR NO SYMPTOMS. HOWEVER, PROFOUND CASES CAN LEAD TO COMA OR DEATH IF TREATMENT IS NOT INITIATED RAPIDLY. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF BIOTINIDASE DEFICIENCY AS WELL AS HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING AND IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.