Rights statement: This is an Accepted Manuscript of an article published by Taylor & Francis in Expert Opinion on Orphan Drugs on 15/09/2019, available online: https://www.tandfonline.com/doi/full/10.1080/21678707.2019.1664899
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Final published version
Research output: Contribution to Journal/Magazine › Review article › peer-review
Research output: Contribution to Journal/Magazine › Review article › peer-review
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TY - JOUR
T1 - The potential of nitisinone for the treatment of alkaptonuria
AU - Taylor, Adam
AU - Shepherd, Laura
N1 - This is an Accepted Manuscript of an article published by Taylor & Francis in Expert Opinion on Orphan Drugs on 15/09/2019, available online: https://www.tandfonline.com/doi/full/10.1080/21678707.2019.1664899
PY - 2019/10/3
Y1 - 2019/10/3
N2 - 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.
AB - 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.
KW - Alkaptonuria
KW - nitisinone
KW - ochronosis
KW - tyrosine
U2 - 10.1080/21678707.2019.1664899
DO - 10.1080/21678707.2019.1664899
M3 - Review article
VL - 7
SP - 435
EP - 441
JO - Expert Opinion on Orphan Drugs
JF - Expert Opinion on Orphan Drugs
SN - 2167-8707
IS - 10
ER -