Journal of Pharmacogenomics & Pharmacoproteomics

Spontaneous Achilles tendon rupture in alkaptonuria

5^th International Conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics

December 01-02, 2016 Valencia, Spain

Heba M Kalbouneh

University of Jordan, Jordan

Posters & Accepted Abstracts: J Pharmacogenomics Pharmacoproteomics

Abstract:

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.

Biography :

Email: heba.kalbouneh@ju.edu.jo