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Phenylketonuria

Created by: Reed Crews
by

Reed Crews

on 6 May 2010

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Transcript of Phenylketonuria

Phenylketonuria What Is It? Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. This enzyme normally converts phenylalanine to another amino acid, tyrosine. Without this enzyme, phenylalanine and its' breakdown chemicals from other enzyme routes, accumulate in the blood and body tissues. Symptoms Some of the early symptoms of this desease include: vomiting, large irritability, dry-itchy rashes, and a mousy odor to the urine. Later, severe brain problems occur, such as mental retardation and seizures. Untreated children may have certain and suprisingly common problems to the disease that include: microcephaly (a small head), widely spaced out teeth with prominent cheek and upper jaw bones, and decreased body growth. Causes This disorder is inherited, not formed along a period of time. This disorder is recessive, not dominant. I couldn't find any specific chromosomes, so I am not so sure of that part. Treatment To identify PKU, newborns are screened 3 days after birth with their blood sample; if abnormal, more testing follows. The goal of PKU treatment is to maintain the blood level of phenylalanine between 2 and IO mg/dl. So measured amounts of cereals, starches, fruits, and vegetables, along with a milk substitute are usually recommended. Who Gets This? PINGAS! Hi There! LOL affect about one of every 10,000 to 20,000 Caucasian or Oriental births. Equal chance for males and females Anthony is a Jew! References: http://www.medhelp.org/lib/pku.htm That's it... The end! Not much more to say here...
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