Alkaptonuria

Alkaptonuria is a rare genetic disorder where the body cannot properly break down a substance called homogentisic acid, which is a byproduct of normal metabolism. This buildup causes the urine to turn dark when exposed to air and leads to the accumulation of pigment in connective tissues like cartilage and skin. Over time, this can result in joint pain, arthritis, and pigmentation changes in the skin and eyes. The condition is inherited in an autosomal recessive manner, meaning both parents must carry the gene. Currently, there is no cure, but management focuses on reducing symptoms and monitoring affected tissues.