The potential of nitisinone for the treatment of alkaptonuria

Taylor, Adam and Shepherd, Laura (2019) The potential of nitisinone for the treatment of alkaptonuria. Expert Opinion on Orphan Drugs, 7 (10). pp. 435-441. ISSN 2167-8707

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Abstract

Introduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metabolism. In recent years, much progress has been made on understanding the condition and its symptoms; the single defective gene has been identified and cloned. In humans, novel phenotypic presentations of the condition have been documented, and in vitro models developed to understand the disease. Furthermore, a mouse model has studied and most recently clinical trials into the effectiveness of nitisinone have been undertaken. Nitisinone has been on a miraculous journey from its discovery as a weed killer to its effective treatment in hereditary tyrosinemia type - 1. Areas covered: The authors describe research into nitisinone and its application in the model and human systems in both hereditary tyrosinemia type 1 (HTT-1) and Alkaptonuria. The published literature was searched for outputs relating to 'Alkaptonuria', 'ochronosis', 'nitisinone', 'hereditary tyrosinemia type 1'. Any paper not in English or had no translation were excluded. Expert opinion: Now nitisinone is being studied for use in Alkaptonuria and this paper documents the journey of AKU and the promising potential of nitisinone in the treatment of Alkaptonuria.