Alkaptonuria is a rare inherited disorder. It is caused due to the lack of an enzyme called HGD. This condition turns urine dark blue or black when exposed to air. The accumulation of homogentisic acid causes bones and cartilage to become discolored and brittle. It leads to osteoarthritis in the spine and large joints. The symptoms of this disorder are stiffness or pain in back or large joints, dark spots in the white portion of the eyes, thick and dark cartilage of the ears, dark colored sweat and earwax, arthritis, etc.
HOW IS ALKAPTONURIA DIAGNOSED?
The diagnosis done to detect this disorder are through tests which include chromatography, DNA testing to check mutated gene, details of family history, physical examination of eye and skin pigmentation, pain in joints and heart and development of stones in organs.
HOW IS ALKAPTONURIA TREATED?
There is no specific treatment for Alkaptonuria. There are other treatments that focus on preventing and relieving complication like arthritis, heart disease and kidney stones. High doses of vitamin C are generally prescribed. Research studies have suggested Nitisinone to be effective in the treatment of alkaptonuria. Medication may be advised for pain in joints. A surgery may be required for shoulder, knee replacement by the age of 50-60 years. Occupational therapy may help maintain flexibility and strength in muscles and joints.