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Phenylketonuria

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental retardation and neurological problems. Most cases occur when this enzyme is deficient and the amount of phenylalanine is slightly higher than usual amount in the circulatory system of a person. This is called hyperphenylalaninemia.. These disorders are different than norm!

al PKU. (Shuett; McKusick) PKU occurs immediately when a child is born. The child appears to be completely normal, but can have blue eyes and can have fairer skin and hair than the rest of its family members. If PKU is unidentified early in an infants li


the child, but can make it difficult to get the child to recover from their illness. (Gleason, Van Calcar)

fe they can have early symptoms which can be identified. Half of untreated babies while develop symptoms such as vomiting, irritability, an eczema-like rash, and a mousy odor to their urine (Bellenir 69). They can also have nervous system problems. Increased muscle tone, and very active tendon reflexes occur from these problems. Soon after they start to undergo mental problems. These problems are severe mental retardation and seizures among other things. Other indications are a smaller head than usual, prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth(Bellenir 69). PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of th!

e genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies. (Schuett) Screening for PKU is now done in e

Some topics in this essay:
Screening PKU, McKusick PKU, , United Incidents, PKU April, McKusick Victor, Wisconsin April, mental retardation, Minnesota April, Markowitz February, Van Calcar, 15 2001, dominant gene, phenylalanine level, april 15 2001, april 15, person ‘pp’ pku, development child, amount phenylalanine, protein essential, person ‘pp’, baby pku, severe mental retardation,

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Approximate Word count = 1129
Approximate Pages = 5 (250 words per page double spaced)


  

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