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Alkaptonuria - Treatment

Alternative Names

AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric 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 and may slow the development of arthritis.

Expectations (prognosis):

The outcome is expected to be good.

Complications:

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.

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 when it is exposed to air.

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Chakrapani A, Holme E. Disorders of tyrosine metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 18.

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