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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • AKU
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
More Names
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How might alkaptonuria be treated?

There is no cure for alkaptonuria, but there is treatment for some individual signs and symptoms of the condition. Joint pain may be substantial in individuals with alkaptonuria, and close attention to pain control is usually necessary. Physical and occupational therapy can be important to promote muscle strength and flexibility. Knee, hip, and shoulder replacement surgeries may be options for managing significant arthritis. In general, however, the goal of joint replacement is pain relief rather than increased range of motion. Maintaining joint range of motion through moderate non-weight-bearing exercise such as swimming may have beneficial effects. Treatment of prostate stones and renal stones may include surgery.[1]

Several therapies for alkaptonuria have been investigated. Treatment of alkaptonuria with nitisinone (also called NTBC) has been proposed; nitisinone is currently approved for the treatment of tyrosinemia type I, which is also a metabolic disorder. Further investigations to determine the benefits of nitisinone in slowing the progression of joint disease are in progress.[1] To see a list of completed clinical trials or trials currently enrolling individuals with alkaptonuria, click here.

No therapy has proven to prevent or correct the pigmentary changes of ochronosis.[1]
Last updated: 8/1/2011

  1. Wendy J Introne, Michael A Kayser, William A Gahl. Alkaptonuria. GeneReviews. March 10, 2011; Accessed 8/1/2011.

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Alkaptonuria. Click on the link to go to to read descriptions of these studies.