Alkaptonuria

Current treatment is aimed at specific symptoms of Alkaptonuria. Such as:

• Pain management for joint pain is necessary
• Physical and occupational therapy to promote muscle strength and flexibility
• Knee, hip, and shoulder replacement surgeries can be considered to treat arthritis
• Prostate and renal stones may need to be surgically removed
• Valve replacement may be necessary in individuals with aortic stenosis
• Avoidance of strenuous sports or physical work is recommended to reduce the impact on the spine and joints

There is also another treatment under study for Alkaptonuria as of May 2019. This investigational medication is Nitisinone, a drug that was originally approved by the FDA to treat another condition, Tyrosinemia Type I. Tyrosinemia is caused by a deficiency of a different enzyme in the same pathway that causes Alkaptonuria. Research has shown that nitisinone is an effective at preventing the buildup of homogentisic acid in the body. This drug caused elevated tyrosine levels in the blood. Theoretically, neurological complications associated with tyrosinemia may occur. Current research is focused on looking at long term use of nitisinone in people with alkaptonuria and the use of nitisinone in children with alkaptonuria.