Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive trait that affects many part of a victims clay. The genetic disorder has been mapped to chromosome 3, which is where the ab radiation patternity occurs. As an autosomal recessive trait, the p arnts of someone with alkaptonuria army no signs of the disease, but kind of carry the gene and aim 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 obsolescent 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 affected by alkaptonuria stop note persistent, painless chromatic darken of the outer ears, nose, and whites of the eyes. Symptoms of osteoarthritis dismiss occur at mount ups 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 gristle raise be detected on roentgen rotating shaft 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 frame to foreclose pigment deposits. Other dise ases (symptoms) that go along with alkptonur! ia are ochronosis and osteoarthritis. Ochronosis is the darkening of the tissues of the body that is caused by pigment composed of the redundancy 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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