Mistry, Jemma and Bukhari, Marwan and Taylor, Adam (2013) Alkaptonuria. Rare Diseases, 1.

2013RAREDIS049R.pdf - Published Version
Available under License Creative Commons Attribution-NonCommercial-NoDerivs.

Download (310kB)


Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in collagenous tissues, namely ochronosis and ochronotic osteoarthropathy. Although this condition does not reduce life expectancy, it significantly affects quality of life. The natural history of this condition is becoming better understood, despite gaps in knowledge. Clinical assessment of the condition has also improved along with the development of a potentially disease-modifying therapy. Furthermore, recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis

Item Type:
Journal Article
Journal or Publication Title:
Rare Diseases
Additional Information:
This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
Uncontrolled Keywords:
ID Code:
Deposited By:
Deposited On:
22 Aug 2014 23:03
Last Modified:
21 Sep 2023 01:45