INBORN ERRORS OF METABOLISM

Course overview

INBORN ERRORS OF METABOLISM ARE A HETEROGENEOUS GROUP OF DISORDERS THAT MAY BE INHERITED OR MAY OCCUR AS THE RESULT OF SPONTANEOUS MUTATIONS. THESE DISEASES INVOLVE FAILURE OF THE METABOLIC PATHWAYS INVOLVED IN EITHER THE BREAK-DOWN OR STORAGE OF CARBOHYDRATES, FATTY ACIDS, AND PROTEINS. ALTHOUGH ANY GIVEN INBORN ERROR OF METABOLISM IS VERY RARE, TAKEN AS A GROUP, INBORN ERRORS OF METABOLISM OCCUR IN 1 IN 2500 BIRTHS. THEY CAN PRESENT AT ANY AGE, AND THEREFORE, AWARENESS OF THESE DISEASES, THEIR PRESENTATIONS, AND THEIR EVALUATION IS CRITICAL FOR INTERPROFESSIONAL TEAM MEMBERS. THIS ACTIVITY DESCRIBES THE RISK FACTORS, EVALUATION, AND MANAGEMENT OF INBORN ERRORS OF METABOLISM AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ENHANCING CARE DELIVERY FOR AFFECTED PATIENTS.