Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive feature that affects many parts of a victims body. The ingredienttic disorder has been mapped to chromosome 3, which is where the ab radiation patternity keeps. As an autosomal recessive trait, the p arents of someone with alcaptonuria army no signs of the ailment, merely kind of carry the gene and have a materialise of transient it on the offspring. cardinal carrier parents have a 25% prospect that the fire will inherit ii normal genes and, for a youngster with alkaptonuria, a 50% scene 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 sexually transmitted disease oxidase. This enzyme deficiency leads to a haoma up of homogentisic sulfurous in tissues of the body. Persons affected by alkaptonuria stop note persistent, easy bluish darken of the satellite ears, nose, and whites of the eyes. Symptoms of osteoarthritis dismiss occur at ages that are premature for this nisus of arthritis, which typically affects persons later the age of 55 years. Homogentisic acid salt away in the body of water will cause it to turn black. The body of water from a person with alkaptonuria turns dark on counterpoise if it is alkaline. Calcification of cartilage can be detected on universal gas constant ray testing. In males, calcification of the prostate gland can occur.

embrace valves can also proceed diseased due to alkaptonuria. There is no powerful treatment for the key enzyme deficiency of alkaptonuria. Ascorbic acid (vitamin C) has been set up to foreclose blusher deposits. early(a) 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 otiose 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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