alkaptonuria

Nitisinone arrests but does not reverse ochronosis in alkaptonuric mice.

Clinical symptoms of alkaptonuric arthropathy are similar to rheumatoid arthritis, especially at an advanced stage.[sup][3] However, small joints are affected in rheumatoid arthritis, whereas the large joints are affected in alkaptonuric arthritis.

Usually the disease progresses from simple alkaptonuria to alkaptonuric arthropathy by the fourth or fifth decade of life in 30% of patients.While degenerative changes of the spine and major joints have been frequently reported, [2-4] there are very few reports [5,6] of spontaneous rupture of tendons caused by the deposition of pigmentat the osseo-tendinous junction.

Alkaptonuric ochronosis can be treated symptomatically during the early stages, whereas for end stages total joint and heart valve replacements may be required.

Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.