Diseases Diseases

About Alcaptonuria Disorder

Introduction

Alcaptonuria disorder is a rare genetic disorder that turns the urine black when exposed to the air. This condition is often asymptomatic, but can cause kidney stones and prostate problems in older men. The condition can also cause the skin to darken on sun exposed areas and around sweat glands. Urine will turn brown if collected and exposed to the air. This disorder occurs more in people that are born in Slovakia.

History

Alcaptonuria disorder was one of the four metabolic disorders discovered by Sir Archibald Edward Garrod. While most of the time there are no symptoms of the disease itself, it can cause the aortic and mitral valves to have calcification. In rare cases, these valves may need to be replaced. Sometimes coronary artery disease can be accelerated when you have this condition. One characteristic of this disease is that the ear wax can turn red or black after being exposed to the air because of homogentistic acid. Cartilage in the shoulder and hip can also become damaged and warrant a replacement surgery at a much younger age.

Features

There is no known cure for the condition of Alcaptonuria, but there are things that your doctor can recommend for you. One of those is taking large doses of ascorbic acid better known as vitamin C. It is also a really good idea to limit the intake of pherylalanine and tyrosine. These restrictions have shown to be more effective in children than with adults. The only thing that is beneficial is the lowering of the homogentistic acid. There has also been evidence in people who have this condition after they have had a liver transplant. The liver transplant had nothing to do with having the disorder, but since Alcaptonuria effects the joints and arteries, in some people after having a liver transplant these improved. By improving there is some connection between the liver and having Alcaptonuria disorder. It is thought that the liver is the main site for the homogentistic acid production.

Tips and comments

There are no known cures for this disorder, and there are no diet restrictions that one has to follow. It has been shown that a high dose of vitamin C does seem to help with some of the symptoms of the disease. But it does not mean that this is a cure for the disease just that it can help with the other issues that are caused by having this disease. It is a good idea if you do have this to talk to your doctor and go in for check-ups every six months. Let him know of any changes that you are experiencing especially with joint pain. He might also recommend that you go see a heart specialist once a year, since this disease can cause issues with the arteries. Also remember that you could also end up with joints that need to be replaced way before it is really time to have them replaced. It can also cause degenerative issues with the discs in your back. It is a disease that people have lived with for a long time and have done well while having it.

By Sally Vigil, published at 04/03/2012
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