Alkaptonuria

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

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):

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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.