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Alkaptonuria

Alternative Names:
Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis

Treatment:

Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage, which may slow the rate of development of arthritis.



Expectations (prognosis):

The outcome is expected to be good.



Complications:
  • Accumulation of homogentisic acid products in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.
  • Homogentisic acid products can accumulate on the heart valves, especially the mitral valve, sometimes leading to the need for valve replacement.
  • Coronary artery disease may develop earlier in people with alkaptonuria.
  • Kidney and prostate stones may be more common in people with alkaptonuria.


Calling your health care provider:

Call your health care provider if you notice that your own urine or your child's urine becomes dark brown or black upon exposure to air.




Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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