Alkaptonuria
Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called homogentisic dioxygenase (HGD). This enzyme is used to interrupt down a toxic substance called alkapton . When you don’t produce enough HGD, alkapton builds up in your body. The buildup of alkapton causes your bones and cartilage to become discolored and brittle. This typically results in osteoarthritis, especially in your spine and enormous joints. People with
alkaptonuria even have urine that turns dark brown or black when it’s exposed to air. Symptoms become more obvious as you age. Your urine may turn dark brown or black when it’s exposed to air. By the time you reach your 20s or 30s, you'll notice signs of early-onset osteoarthritis. For example, you may notice chronic stiffness or pain in your lower back or large joints.
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