The pain can be severe to the point that interferes with activities of daily living and may affect the ability to work. ![]() Īfter the age of 30, people begin to develop pain in the weight-bearing joints of the spine, hips, and knees. ![]() Pigmentation may be noted in the cartilage of the ear and other cartilage, and the sclera and corneal limbus of the eye. Patients with alkaptonuria are asymptomatic as children or young adults, but their urine may turn brown or even inky black if collected and left exposed to open air. Signs and symptoms Intervertebral discs calcification due to ochronosis Alkaptonuria is a rare disease it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth.Īpart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it can improve symptoms. ![]() The accumulating homogentisic acid causes damage to cartilage ( ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. Black urine disease, black bone disease, alcaptonuriaĪlkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase ( EC 1.13.11.5) if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues.
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