There’s no specific treatment for alkaptonuria. Instead, treatment is focused largely on managing symptoms.
There are many therapies that have been tried, but unfortunately they haven’t been proven to be effective, and may be harmful or unhelpful in the long term.
However, The National Institutes of Health warns that long-term use of vitamin C can sometimes increase the production of kidney stones and has generally proven ineffective for long-term treatment of this condition.
Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as:
- heart disease
- kidney stones
For example, your doctor may prescribe anti-inflammatory medications or narcotics for joint pain. Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints.
You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. At some point in your life, you might need surgery.
The World Institutes of Health reports adults can experience a buildup of homogentisic acid in cartilage, resulting in arthritis. As a result those with alkaptonuria may need a shoulder, knee, or hip replacement.
You may also require surgery to replace your aortic or mitral heart valves, if they stop working properly. In some cases, you may need surgery or other therapies to treat chronic kidney or prostate stones.