AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric ochronosis

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

The outcome is expected to be good.

People with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.

• Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement.
• Coronary artery disease may develop earlier in people with alkaptonuria.
• Kidney stones and prostate stones may be more common in people with alkaptonuria.

Call your health care provider if you notice that your own urine or your child's urine becomes dark brown or black when it is exposed to air.

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Alkaptonuria Symptoms

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Alkaptonuria Prevention

Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)