HYPERTYROSINEMIA

Course overview

TYROSINE IS AN ESSENTIAL AROMATIC AMINO ACID REQUIRED FOR CATECHOLAMINES, THYROID HORMONES, AND MELANIN BIOSYNTHESIS. HYPERTYROSINEMIA OR INCREASED BLOOD TYROSINE LEVEL RESULTS FROM AN ABNORMALITY IN TYROSINE METABOLISM. VARIOUS ACQUIRED AND GENETIC DISORDERS ARE KNOWN TO CAUSE HYPERTYROSINEMIA. CONGENITAL DEFICIENCY OF ONE OF THE ENZYMES INVOLVED IN THE TYROSINE CATABOLISM PATHWAY, IMMATURITY OF THESE ENZYMES IN NEONATES, OR HEPATOCELLULAR DYSFUNCTION CAN LEAD TO HYPERTYROSINEMIA. ACCUMULATION OF TYROSINE AND ITS TOXIC METABOLITES ARE MAINLY RESPONSIBLE FOR DISEASE MANIFESTATION. THIS ACTIVITY REVIEWS THE ETIOPATHOGENESIS, CLINICAL PRESENTATION, EVALUATION, AND MANAGEMENT OF DIFFERENT TYPES OF HYPERTYROSINEMIA AND EMPHASIZES THE ROLE OF AN INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS.