Other Symptoms

Other Symptoms Alkaptonuria (AKU) is a multisystemic condition that can affect multiple areas of the body. The symptoms of AKU vary from one person to another. Those described here do not necessarily apply to every patient but generally will be seen to some degree....

Heart Complications

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...

Discolouration of Ears

Discolouration of Ears In the vast majority of patients, their ears will eventually begin to develop a blue-black colour. This is due to homogentisic acid (HGA) attaching itself to the cartilage present in ears. Like the spots in the eyes, this discolouration does not...

Black Spots in the Eyes

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...

Osteoarthritis

Osteoarthritis Overtime, the build-up of homogentisic acid (HGA) leads to severe early onset osteoarthritis. HGA attacks the bones and cartilage, turning them black and brittle over time. Joints become less able to cope with activities which put them under strain,...