Dark urine when exposed to air, accompanied by back and joint pain, may be a sign of a rare genetic disease called Alkaptonuria.
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According to The New England Journal of Medicine, this disease leads to pigment buildup in connective tissue and progressive cartilage damage. One example is the case of a 64-year-old woman.
This woman presented to the doctor with complaints of lower back pain, difficulty walking, a gradual curvature of the spine, and that her urine had been dark since childhood. During the examination, specialists also noted dark pigmentation in the whites of her eyes.
The doctors then took a urine sample and left it at room temperature overnight. By morning, the liquid had turned black, and tests revealed an elevated level of homogeneic acid, confirming the diagnosis.
Scientists say: “In the case of alkaptonuria, the body is unable to properly break down homogentisic acid due to a deficiency of a certain enzyme. Therefore, this acid accumulates and is excreted in the urine, and when exposed to air, it oxidizes, causing a change in its color.”
Doctors explain that over time, the byproducts of this process accumulate in connective tissue, leading to metabolic ochronosis, a condition in which tissues acquire a blue, brown, or black color. Pigmentation may appear in the eyes and ear cartilage, and cartilage damage can cause pain, stiffness, and limited mobility.
According to doctors, the areas most affected by the disease are the spine, hips, knees, and shoulder joints. Because its symptoms are similar to those associated with aging, alkaptonuria is sometimes only diagnosed in adulthood.
Researchers point out that "abnormal urine color alone does not confirm the disease, but its combination with chronic joint pain and eye pigmentation is a reason to consult a doctor."
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