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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.
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.
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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