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Alkaptonuric Ochronosis and Receiving Social Security Disability

Alkaptonuric ochronosis is an inherited (genetic) disease that is marked by your urine turning black when it is exposed to air. Alkaptonuric ochronosis is also characterized by ochronosis. Ochronosis is where there is an accumulation of dark pigment in your connective tissues, such as your cartilage and skin. This blue-black pigmentation usually takes place after you reach the age of 30. One of the difficulties that is connected with alkaptonuric ochronosis is that most people who have this disease begin to develop arthritis. The onset of arthritis is usually in early adulthood. This is arthritis that takes place especially in your spine and large joints. Alkaptonuric ochronosis may also cause prostate stones, kidney stones and heart problems. Alkaptonuric ochronosis is referred to by other names. It is also known as black urine disease, homogentisic acidura, AKU, alkaptonuria and homogentisic acid oxidase deficiency. Somewhere around 1 in 250,000 to 1 million people in the United States are affected by alkaptonuric ochronosis. The incidence of this disease is much higher in the Dominican Republic and Slovakia. In Slovakia, the rate of incidence of alkaptonuric ochronosis is 1 in 19,000. Women and men are affected equally by this disease. Alkaptonuric ochronosis is caused by a mutation (defect) in the HGD gene. This faulty gene results in your body not being able to correctly break down tyrosine and phenylalanine. These are two of your amino acids. What results from this is that a substance referred to as homogentisic acid builds up in your skin and other body tissues and goes out of your body when you urinate. When it mixes with the air, your urine turns brownish-black. As mentioned at the beginning, alkaptonuric ochronosis is a genetic (inherited) disease that you get from your parents. The pattern of inheritance is what is known as autosomal recessive. What this means is that you have to inherit a defective HGD gene from each one of your parents in order to acquire this disease. Because alkaptonuric ochronosis is a genetic (inherited) disease, there is only one risk factor that is known. It is a family history of this disease. It is possible for the urine in a baby’s diaper to get darker and turn to almost black after several hours, if the baby has alkaptonuric ochronosis. However, it is also possible for you to have alkaptonuric ochronosis and not be aware of it until you reach close to the age of 40 in mid-adulthood. It is around this time when arthritis and other problems begin to develop with alkaptonuric ochronosis. There are several other signs and symptoms that you may experience with alkaptonuric ochronosis. Some of these are: ?  Limited range of motion of your joints ?  Calcification of your heart vessels ?  Pain, swelling and stiffness in your joints ?  Sweat that is dark-stained ?  Dark spots that show up on your cornea and sclera (the white of your eye) ?  Artherosclerotic plaques ?  The darkening of your ear ?  Erosion of your peripheral joints ?  Degenerative changes in your peripheral joints ?  Swelling, stiffness and pain in your thoracolumbar spine. There are some serious, disabling complications that can result from alkaptonuric ochronosis. These may include: ?  Coronary artery disease ?  Kidney stones and prostate stones ?  The need for heart valve replacement ?  Arthritis. Are complications that have resulted from alkaptonuric ochronosis responsible for your incapacity and disability? Are you not able to work? Have you requested Social Security disability benefits or disability benefits from the Social Security Administration? Were you turned down for these disability benefits? The lawyer at can assist you in obtaining Social Security disability benefits or disability benefits from the Social Security Administration. Do not put this off for another day. Get in touch with, without delay.