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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.

Overview

What is alkaptonuria?

How might alkaptonuria be treated?

What is alkaptonuria?

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 8/1/2011

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.[2]

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.[2] 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.[2]
Last updated: 8/1/2011

References
  1. Alkaptonuria. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=alkaptonuria. Accessed 8/1/2011.
  2. 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.


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.