ORNITHINE TRANSCARBAMYLASE DEFICIENCY

Course overview

ORNITHINE TRANSCARBAMYLASE DEFICIENCY IS THE MOST COMMON OF THE UREA CYCLE DISORDERS. IT IS AN X-LINKED GENETIC DISORDER THAT PREVENTS THE BREAKDOWN AND EXCRETION OF AMMONIA. THIS ALLOWS AMMONIA TO ACCUMULATE, RISING TO TOXIC LEVELS WHERE IT AFFECTS THE CENTRAL NERVOUS SYSTEM. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY AND EXAMINES THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR AFFECTED PATIENTS.