Alkaptonuria - Treatment
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.
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.
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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