Alkaptonuria, is a metabolic disease where the body is missing an enzyme to break down homogentisic acid. If you have alkaptonuria, you may eventually develop ochronosis, where connective tissue in your body turns a blue-black color.
Adults with ochronosis typically go on to develop arthritis of the spine and large joints.
Ochronosis is a genetic disorder, but patients usually live symptom free until they turn 30 years old. That’s when the cumulative build-up of homogentisic acid in cartilage and other connective tissue begins to turn color and become thick and irregular. Homogentisic acid is typically found in honey and some types of yeast. It’s also an intermediate product as the body makes some types of amino acids.
If you have ochronosis, you may also see the whites of your eyes, called the sclera, become discolored. Your connective tissue, including tendons and ligaments, begin to become weak and you may get more injuries. Lower back pain is common. Arthritis develops in the spine and can lead to curvature and loss of height as well as increased pain.
Joints can be impacted and fluid can build up in your knees and elbows. Mobility is impacted and sufferers have a harder time engaging in physical activity.
The heart can also be damaged as the valve tissue thickens and openings narrow. You may have an increased risk of heart disease or heart failure.
Some patients with alkaptonuria and ochronosis also have a higher chance of getting kidney stones. Men may develop prostate stones.
There’s no way to cure alkaptonuria or ochronosis, but you can treat the associated pain and symptoms. Your doctor may prescribe pain medication depending on the severity of your conditions.
Physical therapy can help maintain mobility in the joints and keep patients more active for longer.
Surgery can help conditions associated with the spine. Sometimes fusions and disk surgeries can help reduce pain.
Some medical professionals are experimenting with high doses of Vitamin C to help prevent the accumulation of homogentisic acid, but there are no definitive medical studies to prove the effectiveness of this treatment.