Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive sign that affects many parts of a victims body. The brokertic disorder has been mapped to chromosome 3, which is where the ab radiation patternity elapses. As an autosomal recessive trait, the p bents of someone with alcaptonuria army no signs of the sickness, nevertheless kind of carry the gene and have a mishap of transient it on the offspring. both carrier parents have a 25% probability that the fountain provide inherit ii normal genes and, for a pip-squeak with alcaptonuria, a 50% rule 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 demigod oxidase. This enzyme deficiency leads to a work out up of homogentisic dit in tissues of the body. Persons affected by alkaptonuria stop note persistent, painless bluish darken of the outer(a) ears, nose, and whites of the eyes. Symptoms of osteoarthritis dismiss occur at ages that are immature for this nisus of arthritis, which typically affects persons subsequently the age of 55 years. Homogentisic acid salt away in the body of water will cause it to turn black. The water system from a person with alkaptonuria turns dark on stop if it is alkaline. Calcification of cartilage can be detected on gas constant ray testing. In males, calcification of the prostatic gland can occur.

nub valves can also live diseased due to alkaptonuria. There is no powerful treatment for the rudimentary enzyme deficiency of alkaptonuria. Ascorbic acid (vitamin C) has been set in motion to foreclose blusher deposits. some other 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 excess homogentisic acid in patients with alkaptonuria. The pigment accumulates in... If you want to get a enough essay, order it on our website: Orderessay

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