Heba M. Kalbouneh
University of Jordan, Jordan
Scientific Tracks Abstracts: Health Care: Current Reviews
Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, weakening of the tendons, and subsequent rupture. In this case report, we present a rare case of a patient presented with unilateral spontaneous rupture of Achilles tendon due to AKU. The patient developed most of the orthopedic manifestations of the disease earlier than typical presentations. Alkaptonuria patients should avoid strenuous exercises and foot straining especially in patients developing early orthopedic manifestations.
Heba Kalbouneh has completed her PhD at the age of 31 years from Heidelberg University, School of Medicine, Germany. She is an assistant professor at Department of Anatomy and Histology, School of Medicine, University of Jordan. She has published 6 papers since 2012 in reputed journals. She is a member of Alkaptonuria Research Association, Alkarak, Jordan.
Email: heba.kalbouneh@ju.edu.jo