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Alkaptonuria Causes

Alkaptonuia has been known as a classic recessive condition that is derived from an autosomal or what is known as the nonsex chromosome.

Alkaptonuria Definition

Alkaptonuria is a very rare disease that is genetically transmitted. The disease is characterized by a deficiency of the enzyme called homogentisic acid oxidase. This type of deficiency often leads to the buildup of the homogentisic acide on the tissues of the body. This medical condition has been reported to be more prevalent in Dominican Republic and Slovakia.

Alkaptonuria Diagnosis

The black color of the urine is the primary basis for a doctor;s diagnosis of Alkaptonuria that is coupled with other symptoms such as discoloration of the skin. The elevated level of the homogenistic acid found in the urine can confirm the disorder.

Alkaptonuria Symptoms and Signs

Individuals who are usually affected with alkaptonuria display some distinct bluish tint on the patient's outer ears, the whites of the eyes and nose. The urine also becomes distinctly black, which is due to the accumulation of homogenistic acid in the body. Another indicator is the cartilage calcification that can be detected through x-ray. The heart halves can also be seriously impaired.

Alkaptonuria Treatment

To date, there is still no known effective treatment for this medical conditional and would correct the underlying enzyme deficiency of this disease. Patients are usually advised to regularly take ascorbic acid or vitamin C, which has been proven the help in preventing the deposit of pigments in the organ. and joint replacement.

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