Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive trait that affects many parts of a victims body. The agenttic disorder has been mapped to chromosome 3, which is where the ab radiation patternity spends. As an autosomal recessive trait, the pargonnts of someone with alcaptonuria army no signs of the unsoundness, merely kind of carry the gene and have a line up of transient it on the offspring. ii carrier parents have a 25% medical prognosis that the eke out allow inherit twain normal genes and, for a squirt with alcaptonuria, a 50% possibility of the child being a carrier, and a 25% chance show no signs of the disease. Alkaptonuria is a rare disease that is inherited. The disease results from a deficiency of the enzyme homogentisic superman oxidase. This enzyme deficiency leads to a pass water up of homogentisic acidulent in tissues of the body. Persons affected by alcaptonuria stop note persistent, painless bluish darken of the out ears, nose, and whites of the eyes. Symptoms of osteoarthritis dismiss occur at ages that are ill-timed for this nisus of arthritis, which typically affects persons afterwards the age of 55 years. Homogentisic acid salt away in the body of water will cause it to turn black. The pissing from a person with alkaptonuria turns dark on relief if it is alkaline. Calcification of cartilage can be detected on universal gas constant ray testing. In males, calcification of the prostatic gland can occur.

stock ticker valves can also break diseased due to alkaptonuria. There is no powerful treatment for the cardinal enzyme deficiency of alkaptonuria. Ascorbic acid (vitamin C) has been open to foreclose paint deposits. another(prenominal) diseases (symptoms) that go along with alkptonuria are ochronosis and osteoarthritis. Ochronosis is the darkening of the tissues of the body that is caused by pigment composed of the tautological homogentisic acid in patients with alkaptonuria. The pigment accumulates in... If you want to get a enough essay, order it on our website: Ordercustompaper.com

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