- Rare inherited genetic disease (usually AR) of the enzyme homogentisate dioxygenase.
- The body accumulates homogentisic acid in the blood and tissues.
- Homogentisic acidàoxidizedàalkaptonàexcreted in the urineàdark color (normal urine on the left in the photo)
- Ochronosis: accumulating homogentisic acid causes damage to cartilage leading to osteoarthritis.
Alkaptonuria
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