Patients do not have enough of the enzyme homogentisic acid oxidase, which causes acid to build up in the body. The result is ochronosis; the formation of a black pigment which binds to bone, cartilage, and skin.
Link to ArticleSCIENTISTS at the University of Liverpool have received £500,000 to develop a treatment for the rare, genetic disease Alkaptonuria. - Liverpool Echo 7
Wednesday, November 12, 2008
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