Alkaptonuria

  • 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.

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