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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alkaptonuria


Other Names for this Disease

  • AKU
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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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

References
  1. Wendy J Introne, Michael A Kayser, William A Gahl. Alkaptonuria. GeneReviews. March 10, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1454/. 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.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Alkaptonuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • AKU
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.