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Question: Is there any treatment for alkaptonuria? or how to reduce the effect of alkaptonuria? Alkaptonuria is a rare disease that is inherited. The disease results from a deficiency of the enzyme homogentisic acid oxidase. This enzyme deficiency leads to a build up of homogentisic acid in tissues of the body.
How is alkaptonuria inherited?
Alkaptonuia is a classic recessive condition. The gene for it is on a nonsex (autosomal) chromosome. Parents of a person with alkaptonuria each have one alkaptonuric gene and a normal gene paired with it. They have no symptoms of alkaptonuria at all. Each of their children has a one-quarter (25%) chance to receive both of their normal genes, a one-half (50%) chance to receive one alkaptonuric and one normal gene (and seem entirely normal) and a one-quarter (25%) chance to receive both of their alkaptonuric genes and have alkaptonuria (ochronosis).
What is ochronosis?
Ochronosis is the darkening of the tissues of the body that is caused by pigment composed of the excess homogentisic acid in patients with alkaptonuria.
Answer: http://www.medicinenet.com/alkaptonuria/…
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