Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive trait that affects many separate of a victims body. The genetic disorder has been mapped to chromosome 3, which is where the ab radiation patternity occurs. As an autosomal recessive trait, the p bents of someone with alkaptonuria army no signs of the disease, but kind of carry the gene and put up a chance of transient it on the offspring. Two carrier parents have a 25% chance that the squirt will get two normal genes and, for a child with alkaptonuria, a 50% chance of the child being a carrier, and a 25% chance show no signs of the disease. Alkaptonuria is a rarefied disease that is inherited. The disease results from a inadequacy of the enzyme homogentisic dose oxidase. This enzyme deficiency leads to a build up of homogentisic acid in tissues of the body. Persons touch by alkaptonuria stop note persistent, painless drear darken of the outer ears, nose, and whites of the eyes. Symptoms of osteoarthritis dismiss occur at come alongs that are premature for this nisus of arthritis, which typically affects persons after the age of 55 years. Homogentisic acid salt away in the body of water will cause it to turn black. The urine from a person with alkaptonuria turns dark on rest if it is alkaline. Calcification of cartilage place be detected on roentgen quill testing. In males, calcification of the prostate gland can occur.

Heart valves can also become diseased due to alkaptonuria. There is no powerful treatment for the underlying enzyme deficiency of alkaptonuria. Ascorbic acid (vitamin C) has been institute to foreclose pigment de posits. Other diseases (symptoms) that go a! long with alkptonuria are ochronosis and osteoarthritis. Ochronosis is the darkening of the tissues of the body that is caused by pigment composed of the superfluous homogentisic acid in patients with alkaptonuria. The pigment accumulates in... If you want to get a enough essay, order it on our website: BestEssayCheap.com

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