BIOTINIDASE DEFICIENCY

Course overview

BIOTIN ACTS AS A COENZYME FOR FOUR CARBOXYLATION ENZYMES IN THE BODY: 3-METHYLCROTONYL-COA CARBOXYLASE (MCC), PYRUVATE CARBOXYLASE (PC), ACETYL-COA CARBOXYLASE (ACC), AND PROPIONYL-COA CARBOXYLASE (PCC). BIOTINIDASE IS AN ENZYME PRESENT ABUNDANTLY IN THE SERUM, KIDNEYS, AND LIVER. BIOTINIDASE DEFICIENCY CAN BE PARTIAL (10 TO 30% OF ENZYME ACTIVITY) OR PROFOUND (LESS THAN 30% OF ENZYME ACTIVITY), SIGNIFICANTLY IMPACTING 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 AND HIGHLIGHTS THE INTERPROFESSIONAL TEAM'S ROLE IN MANAGING AND IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.