Heart Complications One of the most dangerous and potentially life-threatening effects of AKU occurs when HGA builds up in the arteries and inside of the heart. The HGA present in the blood sticks to the vessels and valves of the heart, causing them to harden. They...
Black Spots in the Eyes AKU patients start to develop black spots in the whites of their eyes as they get older. This is caused by a chemical called homogentisic acid (HGA) accumulating in the eye over time until it begins to become visible. Although this looks...
DevelopAKUre The DevelopAKUre programme was a series of major international clinical trials, run by a consortium of 12 European partners. It aimed to study a drug, called nitisinone, and assess its effectiveness in treating AKU. The DevelopAKUre clinical trials...
Information for Healthcare Professionals Alkaptonuria (AKU) was the first condition noted as following Mendelian Inheritance by Sir Archibald Garrod in 1902. ¹ Since then, more work has been done to understand its genetic mechanism. AKU is now understood to be a...
Information and Support ALKAPTONURIA EXPLAINED Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in...
