ALKAPTONURIA

Course overview

ALKAPTONURIA IS A RARE GENETIC INBORN ERROR OF PROTEIN METABOLISM. IT IS THE RESULT OF THE DEFICIENCY OF AN ENZYME (HOMOGENTISATE 1,2 DIOXYGENASE - HGD), LEADING TO THE ACCUMULATION OF HOMOGENTISIC ACID IN CONNECTIVE TISSUE LEADING TO OCHRONOSIS. MOST OF THE TIME, DIAGNOSIS IS DELAYED AS THE PATIENT REMAINS ASYMPTOMATIC DURING CHILDHOOD. IF TREATMENT ALSO DELAYS, IT LEADS TO SEVERE DEFORMITY OF JOINTS, SPINE, AND ORGAN DYSFUNCTION. EARLY DIAGNOSIS IS THE KEY TO MANAGING ALKAPTONURIA EFFECTIVELY. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF ALKAPTONURIA AND HIGHLIGHTS THE ROLE OF PEDIATRICIANS, PHYSICIANS, ORTHOPEDIC SURGEONS, AND REHABILITATION TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.