ARGINASE DEFICIENCY

Course overview

ARGININEMIA IS AN AUTOSOMAL RECESSIVE DISORDER CAUSING HYPERAMMONEMIA SECONDARY TO ARGININE ACCUMULATION. IT IS A DISORDER FIRST NOTICED IN CHILDREN WITH GROWTH REDUCTION, SLOWING COGNITION, AND MILESTONE DEVELOPMENT. OFTEN DIAGNOSED AT BIRTH THROUGH NEWBORN SCREENING (NBS), AFFECTED NEWBORNS ARE FOUND TO HAVE ELEVATED LEVELS (UP TO 4 TIMES) OF ARGININE. ITS MANAGEMENT IS SIMILAR TO OTHER CLASSIC UREA CYCLE DISORDERS, ALTHOUGH WITH MILD OR ABSENT HYPERAMMONEMIA. IF HYPERAMMONEMIA IS PRESENT, IT RESPONDS ADEQUATELY TO AMMONIA-REDUCING INTERVENTIONS. CHRONIC TREATMENT CONSISTS OF PROTEIN RESTRICTION ALONG WITH NITROGEN-SCAVENGING MEDICATIONS. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF ARGININEMIA AND EXPLAINS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.